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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs820346          
refSNP ID: rs820346
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_053025.3:c.1804+4223C>T
NM_053026.3:c.1597+4223C>T
NM_053027.3:c.1804+4223C>T
NM_053028.3:c.1597+4223C>T
NT_005612.15:g.29931898G>A
Links

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 ss1913075 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs820346 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
ss1092905KWOK|OVLP-000804-143731rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca09/02/0010/10/0386Genomic99 %
ss1913075KWOK|OVLP-000925-511572fwd/BC/Ttgcagtgagccgtaatcacaccactggactcagcctggatgacagagcaagaccctgtct10/06/0010/10/0387Genomic99 %
ss3666006SC_JCM|AC020634.9_44475rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca09/24/0110/10/03100Genomicunknown
ss6441613WI_SSAHASNP|NT_005543.12_1793523rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca02/12/0310/10/03111Genomicunknown
ss14216143BCM_SSAHASNP|chr3.NT_005612.14_29931898rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca11/05/0311/22/03119Genomicunknown
ss16971610CSHL-HAPMAP|CSHL-HuAA-200402.chr3.NT_005612.14_29931898rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca02/17/0403/04/04120Genomicunknown
ss19536291CSHL-HAPMAP|CSHL-HuDD-200402.chr3.NT_005612.14_29931898rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca02/20/0403/04/04120Genomicunknown
ss21913938SSAHASNP|WGSA-200403-chr3.chr3.NT_005612.14_29931898rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca03/20/0403/20/04121Genomicunknown
ss78558604HGSV|Cor12878_SNV_20070510.chr3_124919442rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca10/17/0710/20/07129Genomicunknown
ss85703654HGSV|Cor19129_SNV_20070510.chr3_124919442rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca12/06/0712/10/07130Genomicunknown
ss85882099HGSV|Cor18517_SNV_20070510.chr3_124919442rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca12/06/0712/10/07130Genomicunknown
ss92263824BCMHGSC_JDW|JWB-1658406rev/TA/Gagacagggtcttgctctgtcatccaggctgagtccagtggtgtgattacggctcactgca02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs820346|allelePos=1264|totalLen=1525|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TTTCTCACCT CTCGCCTTTT GCCGAGATTT TGCAATCATC GAGATTGCTG GTGCAGCCCT
 CAGACGCGAT TTCTGCAGCC AGCCCTTCAT GCTTTCTCTG CCTTCCCTCC TCAGTGACTC
 TCTTCTTCTC CAAATCCTGG AAACTCCCAc aaatgtcact ttctctggga agcctaccct
 aatcacccca gaatgcgttC CCTGAACACC GTGTGCTTCT AGTATTACAC TTACTTAtca
 acaagtcttt actgcgcgcc tatattgatc agtgccaggc attgttctgg ggaaactgca
 gtagacagga cagctgaggg ccctgcctgc agggtgctta cgttctgatg aggaTGCCAG
 CAGCAGTCAG CACCTGGCCT CATTTCAAAT GCTGGCACGT GCTGTTAAGA ACATGAGCAG
 GTCACAAAGG AATAATTATA AAGAGAAAAA GCCAGTGAGT GGGGTGTGTG AATCGAGGAG
 GGTGAGAGGG TGTATCTTTA GTGCTGTGAG GAAGCCTCAG AGGTGTCCAT GGCctgggga
 aagagagctc taggtgggca gcacagcaag tgcaaggccc tgagtcagga gcaaggttga
 cccattcgag gagtagcaag acagcagcct ctgtggctgc agcaaagtag acggggcagt
 gtgatagaaa gtgagttcag aatgcggggg ctcaccattc caggcctctg gaggAGAGGA
 GAAAACAATT TACTCCGTGA AAATTCACTT TCATTTTACT CTACTTGCTT AATTATCTTC
 CTCTCCACAC TGTAAGCTCC CTGCAGGGAG GGATCACGTC ATACTGTGTG TAGAGCCAGG
 CCTGCCATGG GAGCATGCAT TCCCTGAATG GATGAGAGCA CAGAGGTTGC CGAACCTCCC
 CTGCAGTGCA GGGAGGCATT CCCTAGAATT CCTCGCTTTT CTGGGGGCTC AGTGCCCATT
 AGGGTGTGCA GGAAATCTGC AAATTACCTT CAAGAGTCCC TCAACAGggc taggcacagt
 gtctcatgcc tgtaatccca gcactttggg aggccaaggc aggtggatct cttgagccga
 ggagttcgag accaccttgg gcaacacggc aacacaccgt ctccacaaaa aacacaaaaa
 ttagccggga gtggtggccc atgcctctag tcccagctac tcaggaggct gaggcaggag
 gattgcttga gcctgcgagg tcgagactgc agttgcagtg agccgtaatc acaccactgg
 act
 Y
 cagcctggat gacagagcaa gaccctgtct caaaaaaaaa aaaaaaaaaa aaaaaaaaaa
 aAAAAGAGTC CCTCAACAAA TATTCCTTCT TTCCCCAACA CAGGCTAGGG AAAAAAAATT
 CCCCAATAGT TAACCAAGCA ATGAATGTCT TTCCTCCTGA CCCAGGATGA GTCCTGATCC
 AGGATGATTA ATTCAAATTC CTGCAGAGCC CAGGAATATC TGAAATACAG TATATATTTC
 ACAGCGTTTG GACTGAGTCA T

  GeneView back to top
GeneView via analysis of contig annotation: MYLK myosin light chain kinase
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_053025
svfunction
referenceNT_005612->NM_053026
svfunction
referenceNT_005612->NM_053027
svfunction
referenceNT_005612->NM_053028
svfunction
HuRefNW_001838882->NM_053025
svfunction
HuRefNW_001838882->NM_053026
svfunction
HuRefNW_001838882->NM_053027
svfunction
HuRefNW_001838882->NM_053028
svfunction
CeleraNW_921807->NM_053025
svfunction
CeleraNW_921807->NM_053026
svfunction
CeleraNW_921807->NM_053027
svfunction
CeleraNW_921807->NM_053028
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005612->NM_053025->NP_44425329931898reverseintron
referenceNT_005612->NM_053026->NP_44425429931898reverseintron
referenceNT_005612->NM_053027->NP_44425529931898reverseintron
referenceNT_005612->NM_053028->NP_44425629931898reverseintron
HuRefNW_001838882->NM_053025->NP_4442533441763forwardintron
HuRefNW_001838882->NM_053026->NP_4442543441763forwardintron
HuRefNW_001838882->NM_053027->NP_4442553441763forwardintron
HuRefNW_001838882->NM_053028->NP_4442563441763forwardintron
CeleraNW_921807->NM_053025->NP_44425330029906reverseintron
CeleraNW_921807->NM_053026->NP_44425430029906reverseintron
CeleraNW_921807->NM_053027->NP_44425530029906reverseintron
CeleraNW_921807->NM_053028->NP_44425630029906reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs820346 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_001838882.23441763120810612plusTalt_assembly_8HuRefHuRefview1263
3NW_921807.130029906121844236minusAalt_assembly_1CeleraCeleraview1263
3NT_005612.1529931898124919442minusGref_assemblyreferencereferenceview1263

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005612 AC023165 AC023165.11
dbSNP Blast Analysis
GenBank HTGS Finished:
AC020634.16 NC_000003.10

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .