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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs334535          
refSNP ID: rs334535
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_002093.2:c.88+19890G>A
NT_005612.15:g.26287450C>T
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss1928550 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs334535 during BLAST analysis for the current build.

NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss426859KWOK|OVLP-000621-316493fwd/TA/Gtataaaacagtggctgtgagagatgggtaaaagtgtagttgaaatccatattgcaaaatc06/30/0010/10/0379Genomic99 %
ss949567KWOK|OVLP-000804-394882fwd/TA/Gtataaaacagtggctgtgagagatgggtaaaagtgtagttgaaatccatattgcaaaatc09/01/0010/10/0386Genomic99 %
ss1928550KWOK|OVLP-000925-681802byFreqfwd/TA/Gtataaaacagtggctgtgagagatgggtaaaagtgtagttgaaatccatattgcaaaatc10/06/0010/25/0687Genomic99 %
ss3710354SC_JCM|AC024217.9_81315fwd/TA/Gtataaaacagtggctgtgagagatgggtaaaagtgtagttgaaatccatattgcaaaatc09/25/0110/10/03100Genomicunknown
ss10085134BCM_SSAHASNP|chr3.NT_005612.13_26191458rev/BC/Tgattttgcaatatggatttcaactacacttttacccatctctcacagccactgttttata06/27/0310/10/03116Genomicunknown
ss14171191BCM_SSAHASNP|chr3.NT_005612.14_26287450rev/BC/Tgattttgcaatatggatttcaactacacttttacccatctctcacagccactgttttata11/05/0311/22/03119Genomicunknown
ss23255219PERLEGEN|afd2407025byFreqrev/BC/Tgattttgcaatatggatttcaactacacttttacccatctctcacagccactgttttata08/10/0409/13/04123Genomicunknown
ss66080208AFFY|SNP_A-1912020byFreqfwd/TA/Gtgtgagagatgggtaaaagtgtagttgaaatc10/27/0608/14/07127Genomicunknown
ss68873419PERLEGEN|PGP02407025byFreqrev/BC/Tgattttgcaatatggatttcaactacacttttacccatctctcacagccactgttttata01/30/0708/14/07127Genomicunknown
ss75128109ILLUMINA|ILMN_Human_1M_rs334535fwd/TA/Gtataaaacagtggctgtgagagatgggtaaaagtgtagttgaaatccatattgcaaaatc08/28/0708/29/07129Genomicunknown
ss76020493AFFY|AFFY_6_1M_SNP_A-1912020fwd/TA/Gtgtgagagatgggtaaaagtgtagttgaaatc08/28/0708/29/07129Genomicunknown
ss81374749HGSV|Cor18507_SNV_20070510.chr3_121274994rev/BC/Tgattttgcaatatggatttcaactacacttttacccatctctcacagccactgttttata11/26/0711/29/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs334535|allelePos=230|totalLen=863|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ATTTGGAGAG GGAATAAGAT AATTGCCCGA AATTGGAAGA ATTAAGGTTT TTTAGGGTAC
 GGCTTAGGAA CTTCTACTTT TTGTAGTGTT ACTTATGGAG GAGAAAGTAA TTGTCAGTCA
 TATATAAGTA CAGtttattt tattttaaaa taaaaatttt aaGAGCAAAT ACCTTGCTTT
 TAAAACTGAT CTGGCTAGCT ATAAAACAGT GGCTGTGAGA GATGGGTAA
 R
 AAGTGTAGTT GAAATCCATA TTGCAAAATC AGTTTTGAGC CTGAGCTCCT ATCCttttct
 tttcttcttt gagatggggt cttgctctct tgcccaggct gaagtgctgt ggtgtggttg
 tggctcactg cagcctacct cctgggctca ggtgatactc ttgcatcagc ctttcaatta
 gctaggacta caggcccgca ccaccatgcc aggctttttt tttttttttt tttttttaat
 tttttttgta gagatgaggt ctccctatgt tgtccaggct gggcttaagc aattcttctg
 ccttgtcctc tcagagtgca gggattatag atgtgagcca cagagctcag tcAGGATCAC
 tttaacagat gaaactgaat cttagagaag ttaagtaact cttgccaagg tttcatagcc
 agcaggtggc agagcctgga ttccaaccca ggtaatttag tctagagctc ttattcttaa
 ctactttact gtcctAAGAG TATGCGAATG TACAGAAATG GAGCCTTGCT ACCTCTGGTA
 ACTTGAAGGC ACCAATTTTG CGTTCAGTTA ACATATCATA GTTTGATCCA AGGCAAGAAC
 AGAAGTGTTA ACACTTCACC TGCCTCTGTC CTT

  GeneView back to top
GeneView via analysis of contig annotation: GSK3B glycogen synthase kinase 3 beta
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_005612->NM_002093
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005612->NM_002093->NP_00208426287450reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs334535 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
3NW_001838881.2501686117168388plusGalt_assembly_8HuRefHuRefview229
3NW_921807.126387731118202061minusCalt_assembly_1CeleraCeleraview229
3NT_005612.1526287450121274994minusCref_assemblyreferencereferenceview229

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005612 AC021885 AC024217.9
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
N
ss1928550HapMap-CEUEuropean 120IG 0.067 0.367 0.567 1.000 0.250 0.750
HapMap-HCBAsian 90IG 0.133 0.867 0.655 0.067 0.933
HapMap-JPTAsian 88IG 0.068 0.932 1.000 0.034 0.966
HapMap-YRISub-Saharan African 120IG 0.383 0.450 0.167 0.752 0.608 0.392
CHMJAsian 74IG 0.108 0.865 0.027
ss23255219AFD_EUR_PANELEuropean 48IG 0.083 0.375 0.542 1.000 0.271 0.729
AFD_AFR_PANELAfrican American 46IG 0.174 0.609 0.217 0.294 0.478 0.522
AFD_CHN_PANELAsian 48IG 0.125 0.875 0.752 0.062 0.938
ss66080208HapMap-CEUEuropean 118GF 0.068 0.424 0.508 0.280 0.720
HapMap-HCBAsian 90GF 0.267 0.733 0.133 0.867
HapMap-JPTAsian 90GF 0.022 0.244 0.733 0.144 0.856
HapMap-YRISub-Saharan African 120GF 0.350 0.433 0.217 0.567 0.433
ss68873419HapMap-CEUEuropean 120GF 0.067 0.367 0.567 0.250 0.750
HapMap-HCBAsian 90GF 0.133 0.867 0.067 0.933
HapMap-JPTAsian 90GF 0.067 0.933 0.033 0.967
HapMap-YRISub-Saharan African 120GF 0.383 0.450 0.167 0.608 0.392
Concordant GenotypeTotal SampleA/AA/GG/G
ss19285502343573125
ss2325521969
ss660802082333573125
ss68873419234
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs3345353323573126
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
242ss1928550G/GCSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02r23_ch3_CEU_illumina:golden_gate_1.0.0398482
242ss23255219C/CPERLEGENAFD_EUR_PANELNA1085471_IND_CHR_3
242ss66080208A/GCSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02chr3-HapMap-CEU
242ss68873419C/CCSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02chr3-HapMap-CEU
363ss1928550G/GCSHL-HAPMAPHapMap-CEUNA11995CEPH1362.16r23_ch3_CEU_illumina:golden_gate_1.0.0398482
363ss66080208A/GCSHL-HAPMAPHapMap-CEUNA11995CEPH1362.16chr3-HapMap-CEU
363ss68873419C/CCSHL-HAPMAPHapMap-CEUNA11995CEPH1362.16chr3-HapMap-CEU
366ss1928550A/GCSHL-HAPMAPHapMap-CEUNA10863CEPH1375.02r23_ch3_CEU_illumina:golden_gate_1.0.0398482
366ss66080208G/GCSHL-HAPMAPHapMap-CEUNA10863CEPH1375.02chr3-HapMap-CEU
366ss68873419C/TCSHL-HAPMAPHapMap-CEUNA10863CEPH1375.02chr3-HapMap-CEU
399ss1928550G/GCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01r23_ch3_CEU_illumina:golden_gate_1.0.0398482
399ss23255219C/CPERLEGENAFD_EUR_PANELNA1083071_IND_CHR_3
399ss66080208A/GCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01chr3-HapMap-CEU
399ss68873419C/CCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01chr3-HapMap-CEU
467ss1928550G/GCSHL-HAPMAPHapMap-CEUNA12006CEPH1420.12r23_ch3_CEU_illumina:golden_gate_1.0.0398482
467ss66080208A/GCSHL-HAPMAPHapMap-CEUNA12006CEPH1420.12chr3-HapMap-CEU
467ss68873419C/CCSHL-HAPMAPHapMap-CEUNA12006CEPH1420.12chr3-HapMap-CEU
538ss1928550G/GCSHL-HAPMAPHapMap-CEUNA12753CEPH1447.02r23_ch3_CEU_illumina:golden_gate_1.0.0398482
538ss66080208A/GCSHL-HAPMAPHapMap-CEUNA12753CEPH1447.02chr3-HapMap-CEU
538ss68873419C/CCSHL-HAPMAPHapMap-CEUNA12753CEPH1447.02chr3-HapMap-CEU
577ss1928550A/GCSHL-HAPMAPHapMap-CEUNA12813CEPH1454.13r23_ch3_CEU_illumina:golden_gate_1.0.0398482
577ss66080208G/GCSHL-HAPMAPHapMap-CEUNA12813CEPH1454.13chr3-HapMap-CEU
577ss68873419C/TCSHL-HAPMAPHapMap-CEUNA12813CEPH1454.13chr3-HapMap-CEU
578ss1928550G/GCSHL-HAPMAPHapMap-CEUNA12814CEPH1454.14r23_ch3_CEU_illumina:golden_gate_1.0.0398482
578ss66080208A/GCSHL-HAPMAPHapMap-CEUNA12814CEPH1454.14chr3-HapMap-CEU
578ss68873419C/CCSHL-HAPMAPHapMap-CEUNA12814CEPH1454.14chr3-HapMap-CEU
636ss1928550G/GCSHL-HAPMAPHapMap-CEUNA12891CEPH1463.15r23_ch3_CEU_illumina:golden_gate_1.0.0398482
636ss66080208A/GCSHL-HAPMAPHapMap-CEUNA12891CEPH1463.15chr3-HapMap-CEU
636ss68873419C/CCSHL-HAPMAPHapMap-CEUNA12891CEPH1463.15chr3-HapMap-CEU
5139ss1928550A/GCSHL-HAPMAPHapMap-YRINA19100YOR105.01r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5139ss66080208G/GCSHL-HAPMAPHapMap-YRINA19100YOR105.01chr3-HapMap-YRI
5139ss68873419C/TCSHL-HAPMAPHapMap-YRINA19100YOR105.01chr3-HapMap-YRI
5142ss1928550A/ACSHL-HAPMAPHapMap-YRINA19194YOR112.01r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5142ss66080208A/GCSHL-HAPMAPHapMap-YRINA19194YOR112.01chr3-HapMap-YRI
5142ss68873419T/TCSHL-HAPMAPHapMap-YRINA19194YOR112.01chr3-HapMap-YRI
5144ss1928550A/GCSHL-HAPMAPHapMap-YRINA19192YOR112.03r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5144ss66080208G/GCSHL-HAPMAPHapMap-YRINA19192YOR112.03chr3-HapMap-YRI
5144ss68873419C/TCSHL-HAPMAPHapMap-YRINA19192YOR112.03chr3-HapMap-YRI
5148ss1928550G/GCSHL-HAPMAPHapMap-HCBNA18526CH18526r23_ch3_HCB_illumina:golden_gate_1.0.0398482
5148ss66080208A/GCSHL-HAPMAPHapMap-HCBNA18526CH18526chr3-HapMap-HCB
5148ss68873419C/CCSHL-HAPMAPHapMap-HCBNA18526CH18526chr3-HapMap-HCB
5149ss1928550G/GCSHL-HAPMAPHapMap-HCBNA18524CH18524r23_ch3_HCB_illumina:golden_gate_1.0.0398482
5149ss66080208A/GCSHL-HAPMAPHapMap-HCBNA18524CH18524chr3-HapMap-HCB
5149ss68873419C/CCSHL-HAPMAPHapMap-HCBNA18524CH18524chr3-HapMap-HCB
5158ss1928550G/GCSHL-HAPMAPHapMap-HCBNA18605CH18605r23_ch3_HCB_illumina:golden_gate_1.0.0398482
5158ss66080208A/GCSHL-HAPMAPHapMap-HCBNA18605CH18605chr3-HapMap-HCB
5158ss68873419C/CCSHL-HAPMAPHapMap-HCBNA18605CH18605chr3-HapMap-HCB
5159ss1928550G/GCSHL-HAPMAPHapMap-HCBNA18542CH18542r23_ch3_HCB_illumina:golden_gate_1.0.0398482
5159ss66080208A/GCSHL-HAPMAPHapMap-HCBNA18542CH18542chr3-HapMap-HCB
5159ss68873419C/CCSHL-HAPMAPHapMap-HCBNA18542CH18542chr3-HapMap-HCB
5169ss1928550G/GCSHL-HAPMAPHapMap-HCBNA18564CH18564r23_ch3_HCB_illumina:golden_gate_1.0.0398482
5169ss66080208A/GCSHL-HAPMAPHapMap-HCBNA18564CH18564chr3-HapMap-HCB
5169ss68873419C/CCSHL-HAPMAPHapMap-HCBNA18564CH18564chr3-HapMap-HCB
5175ss1928550G/GCSHL-HAPMAPHapMap-HCBNA18620CH18620r23_ch3_HCB_illumina:golden_gate_1.0.0398482
5175ss66080208A/GCSHL-HAPMAPHapMap-HCBNA18620CH18620chr3-HapMap-HCB
5175ss68873419C/CCSHL-HAPMAPHapMap-HCBNA18620CH18620chr3-HapMap-HCB
5200ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18949JA18949r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5200ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18949JA18949chr3-HapMap-JPT
5200ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18949JA18949chr3-HapMap-JPT
5204ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18964JA18964r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5204ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18964JA18964chr3-HapMap-JPT
5204ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18964JA18964chr3-HapMap-JPT
5212ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18965JA18965r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5212ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18965JA18965chr3-HapMap-JPT
5212ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18965JA18965chr3-HapMap-JPT
5216ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18967JA18967r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5216ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18967JA18967chr3-HapMap-JPT
5216ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18967JA18967chr3-HapMap-JPT
5220ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18980JA18980r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5220ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18980JA18980chr3-HapMap-JPT
5220ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18980JA18980chr3-HapMap-JPT
5229ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18992JA18992r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5229ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18992JA18992chr3-HapMap-JPT
5229ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18992JA18992chr3-HapMap-JPT
5231ss1928550G/GCSHL-HAPMAPHapMap-JPTNA18998JA18998r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5231ss66080208A/GCSHL-HAPMAPHapMap-JPTNA18998JA18998chr3-HapMap-JPT
5231ss68873419C/CCSHL-HAPMAPHapMap-JPTNA18998JA18998chr3-HapMap-JPT
5232ss1928550G/GCSHL-HAPMAPHapMap-JPTNA19000JA19000r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5232ss66080208A/GCSHL-HAPMAPHapMap-JPTNA19000JA19000chr3-HapMap-JPT
5232ss68873419C/CCSHL-HAPMAPHapMap-JPTNA19000JA19000chr3-HapMap-JPT
5233ss1928550A/GCSHL-HAPMAPHapMap-JPTNA19005JA19005r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5233ss66080208A/ACSHL-HAPMAPHapMap-JPTNA19005JA19005chr3-HapMap-JPT
5233ss68873419C/TCSHL-HAPMAPHapMap-JPTNA19005JA19005chr3-HapMap-JPT
5235ss1928550G/GCSHL-HAPMAPHapMap-JPTNA19007JA19007r23_ch3_JPT_illumina:golden_gate_1.0.0398482
5235ss66080208A/GCSHL-HAPMAPHapMap-JPTNA19007JA19007chr3-HapMap-JPT
5235ss68873419C/CCSHL-HAPMAPHapMap-JPTNA19007JA19007chr3-HapMap-JPT
5267ss1928550A/GCSHL-HAPMAPHapMap-YRINA18913YOR028.03r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5267ss66080208G/GCSHL-HAPMAPHapMap-YRINA18913YOR028.03chr3-HapMap-YRI
5267ss68873419C/TCSHL-HAPMAPHapMap-YRINA18913YOR028.03chr3-HapMap-YRI
5283ss1928550A/GCSHL-HAPMAPHapMap-YRINA19205YOR048.01r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5283ss66080208G/GCSHL-HAPMAPHapMap-YRINA19205YOR048.01chr3-HapMap-YRI
5283ss68873419C/TCSHL-HAPMAPHapMap-YRINA19205YOR048.01chr3-HapMap-YRI
5291ss1928550G/GCSHL-HAPMAPHapMap-YRINA19207YOR051.03r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5291ss66080208A/GCSHL-HAPMAPHapMap-YRINA19207YOR051.03chr3-HapMap-YRI
5291ss68873419C/CCSHL-HAPMAPHapMap-YRINA19207YOR051.03chr3-HapMap-YRI
5293ss1928550A/ACSHL-HAPMAPHapMap-YRINA19159YOR056.02r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5293ss66080208G/GCSHL-HAPMAPHapMap-YRINA19159YOR056.02chr3-HapMap-YRI
5293ss68873419T/TCSHL-HAPMAPHapMap-YRINA19159YOR056.02chr3-HapMap-YRI
5294ss1928550A/GCSHL-HAPMAPHapMap-YRINA19160YOR056.03r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5294ss66080208G/GCSHL-HAPMAPHapMap-YRINA19160YOR056.03chr3-HapMap-YRI
5294ss68873419C/TCSHL-HAPMAPHapMap-YRINA19160YOR056.03chr3-HapMap-YRI
5295ss1928550A/ACSHL-HAPMAPHapMap-YRINA19221YOR058.01r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5295ss66080208A/GCSHL-HAPMAPHapMap-YRINA19221YOR058.01chr3-HapMap-YRI
5295ss68873419T/TCSHL-HAPMAPHapMap-YRINA19221YOR058.01chr3-HapMap-YRI
5296ss1928550A/ACSHL-HAPMAPHapMap-YRINA19222YOR058.02r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5296ss66080208A/GCSHL-HAPMAPHapMap-YRINA19222YOR058.02chr3-HapMap-YRI
5296ss68873419T/TCSHL-HAPMAPHapMap-YRINA19222YOR058.02chr3-HapMap-YRI
5310ss1928550A/GCSHL-HAPMAPHapMap-YRINA19129YOR077.01r23_ch3_YRI_illumina:golden_gate_1.0.0398482
5310ss66080208G/GCSHL-HAPMAPHapMap-YRINA19129YOR077.01chr3-HapMap-YRI
5310ss68873419C/TCSHL-HAPMAPHapMap-YRINA19129YOR077.01chr3-HapMap-YRI
Genotype data submitted for341 samples from332 individualsIndividual with multiple genotypes submission:270

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .