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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1306742          
refSNP ID: rs1306742
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/129
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_000712.3:c.352+751T>C
NT_007819.16:g.43322120T>C
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 ss1645191 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1306742 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
ss1645191KWOK|OVLP-000925-506332byFreqfwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc10/04/0010/25/0687Genomic97 %
ss2456414SC_JCM|AC005189.1_172401fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc11/03/0010/10/0392Genomicunknown
ss2932317TSC-CSHL|TSC1045018fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc01/26/0110/10/0394Genomicunknown
ss6091333SC_JCM|NT_007819.10_43130862fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc01/10/0310/10/03111Genomicunknown
ss14554355WUGSC_SSAHASNP|chr7.NT_007819.14_43125278fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc11/05/0311/22/03120Genomicunknown
ss20305943CSHL-HAPMAP|CSHL-HuFF-200402.chr7.NT_007819.14_43125278fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc02/21/0403/04/04120Genomicunknown
ss22599207SSAHASNP|WGSA-200403-chr7.chr7.NT_007819.14_43125278fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc03/21/0403/21/04121Genomicunknown
ss22905119SSAHASNP|AACC-200403.chr7.NT_007819.14_43125278fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc03/22/0403/22/04121Genomicunknown
ss23143504EGP_SNPS|BLVRA-036849byFreqfwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc05/13/0405/16/04126Genomicunknown
ss24196573PERLEGEN|afd4075265byFreqfwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc08/10/0409/13/04123Genomicunknown
ss42910265ABI|hCV11830342fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc07/18/0507/18/05126Genomicunknown
ss77608212HGSV|Cor12156_SNV_20070510.chr7_43606402fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc10/09/0710/13/07129Genomicunknown
ss85591351HGSV|Cor19129_SNV_20070510.chr7_43606402fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc12/06/0712/09/07130Genomicunknown
ss93668932BCMHGSC_JDW|JWB-2302661fwd/BC/Tcagcccagcactttgggaggccaaggagctgggacaaccctgggcaacataatgagaccc02/26/0803/04/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1306742|allelePos=451|totalLen=5451|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 ACTTATATTG CTAAATGCTG GGATATCCTA AAAATGCTCA AATCAGAGAA ACTGATTGTC
 TTATTTGCAT AGTTTGTAGT TTTTGTTGTT TCTAAACAGG aataaccatt tattaaatat
 ttagtatatg ctaggaactt ggaaactctg ctaagcactt catatgttat tttgcttaat
 tcttctagaa tcccttggag gtatatattt tctctagatg ctgtatagaa aaatatggct
 caaagaagtt aatttgtgcc aggtcacaaa gctaataaCA TGACTACTAA GTGGGAGGTA
 GAGATTTTAA TCAAATCCTA CAGGGCTCTT AAGTTCACAT TTGTTCCCCT AAGCCATACC
 ACCCTCCAGA AGGGAGAAAT TAAGACTTTC CCAggccaga cgcagtggct catgccctgt
 cagcccagca ctttgggagg ccaaggagct
 Y
 gggacaaccc tgggcaacat aatgagaccc tgtttctaca aaaaTCTTTT ACAACttttt
 tttttttttt tttggtgggg tacagagtct tgctgtgtca cccaggctgg agttcaatgg
 caccatctca gctcactgca acctccgcct cctgggttca agggattctc cttcctcagc
 ctcctgagta gctaggatta caggcgccca ccaccatgcc cagctaattt ttgtattttt
 agtagagatg gggtttcacg atgttggaca caatggtctc aaactcctga cctcgcgatc
 cacccacctc ggcctcccaa agtgctggga ttacaggcat gagtgaccgt gcccggcATA
 CAAAATTTTT AATTACAAGA AAAAAAAAAA AAGACTCagc tgggcacagt ggctcacacc
 tgtaatccca gcactttagg aggctctgat ggatagatta tttgagccca ggagtttgag
 accagcctgg gcaacatggt gaaacccatc tctactgaaa atacaaaaat taactgggtg
 tggtggtgca taccggtagt cccagctact tggaagttca cctgaacctt aggaggttga
 ggctgcactg aaccatgatc gggccactgc actctagtct gggcaacaga gtgagaccct
 gtctcaaaaa taaaaataaa aaTTCTTTAA aagacctacc cagacaaaca aaaaccaagt
 gagttgatca ctactagacc tgccctacag gaaatgctaa aggaagtctt tcaagttaaa
 gtgaaaacac tagacagcaa cacaaaaata ttgctctctg gtaaaggtaa atatatagac
 aaatacagac ttccgtagta ttgtaatgtt gacatataaa tcactttAgg ccaggcacgg
 tggctcaagc ctgtaatccc aggacttggg gaggccgagg caagcagatc atttgaggtc
 aggagttcaa gaccatcctg gccaacatgg tgaaacccca tctctactaa aaataaaaaa
 attagctggg cgtggtggcg cttgcctgta gtcccagcta ctcaggaggc tgaggcagca
 gaattgcttg aacctgggag gcggaggttg cagtgagctg agatggtgcc actgcactcc
 agcctgggta acaccatgaa actctatctc taaataaata aaTATCACTT TAAATCCTGG
 Catagaattt aaaagacaaa aaaatacaaa ctatgttaat ggatgtatag tataaaaaga
 tgtaattggt aacattaata gcaaaatggg gggtcagaga tataaaggag tagaattttg
 tatgtgattg agttaagttg ttagcagttt aaaatagatt atGCagtcgg gtgtggtggc
 tcatgcctgt catcccagca ctttgggaag ccgaggctgg tggatcacct gaagtcagga
 tttcaagagg agcctgggca acatggtgaa actccgtctc tactaataat acaaaaatta
 gctgggcctg gtggcacgtg cctgtaatcc cagctactcc agaggctaag gcacgagaat
 cgcttgaacc caggaggtgg aggttgcagt gagccaagat tgtggcattg cactttagcc
 tgggcgacac agtgagactc catctcagaa aTTAAATACA TACATAAATA AATAATAAAA
 ATAGATTGTg cctgtaatcc cagcactttg ggaggctgag gcgggcgaat cacctgaggt
 caggatttca agaccagcct agccaacatg gtgaaacccc atctctacta aaaatacaaa
 aattagccag gtgtggtggc gcgcacatat agtcccagct actggggagg ctgaggcagg
 agaattgctt aaacccagga ggcagaggtt gcagtgaggg agatcgcacc actgcactcc
 agcctgggcg atggagtgag actctgCTCa aacaaaacaa aacaatacaa aacTGACAAg
 atgtaatgaa agcagtacta agagagaagt ggatagttgt aaatgcttac attaaacaag
 aagaaagatc tcaaatcaac atcctaactt tacatttcaa gggactagga aaagaagagc
 aaactcaatc gaaaattagc agaaaaaagc aagtaaagat tagaacataa ataaaataga
 gagtagaaaa gcaatagaaa aaaatcaaca aaaccaagtt tttttgaaaa aaatccataa
 aattgacaga attttagcag attaagaaaa aaaagagtcg gccgggtgca gtggctcacg
 cctgtaatcc cagcattttg ggaggccaag gaggacagat cacaaggtca agagtccaag
 acctgcctgg ccaaaatagt gcaaccccat ctctactaaa aatacaaaaa ttagccaggc
 atggtggcac atgcctatag tcccagctac tcgggaggct gagacaggag aatcacttga
 acccaggagg tggaggttgt gctgagggga ggttgtggtg agccgagatt gcaccactgt
 actccatcct gggcaacaga gcgagactct gtctcacaaa aaaaaaaaaa aaagaaaaga
 aaagaaaaga aaaaaagagt aaagactcaa actaaagtca gaagtgaaag aggagacatt
 acaacaaatg ctgctgaaat aaaaaggatt atatgagact acaatgaaca cttatacaat
 tgttatactc caacaatcgg ataatctaga aagggataaa tacctagtag catataacct
 actaagactg aatcatgaag aaacaaaaat ctgaacagat ttataactag taaggagatt
 gaaccagtaa ttaaacacct cccaataaag aaaagcctaa aaccagatgg cttcactgga
 gaattctacc aagtgtttca gtctcttcaa aaagtggtcc caggaaaaca ggatatccac
 atgcaaaaga atgaagttgg acacttacct tacaccatat aaaaaattca ctcaaatgga
 ttaaagaact aaatttaaga cctaaaactg taatattgtt agaagaaaac atgggaaagc
 atcaagatat tggatttggc aataatgtct tacatacgac atcaaaaaca caggcaaaaa
 aagcaaaaaa cagacaaatg gactaatcaa acttaaaacc ttctgtgcct caaaggaagc
 aatcaactga gtgaaaaagc agtctatgta atgggtgaag atatctgcaa atcttatctt
 tgataagaga tcaatatcca gaatgtctaa agaactctac aactcaacaa caaacaaacc
 aaataaactg attttaaaat gggcaaagga cttggataga catttttctg aagaagttat
 tcagacggca aacaatcata tgaaaagatg ctcaatacca ctaatcctta tagaaaatgc
 aaatcaaatc cacagccacc gtcagtaacc accagcatca gtcagcagcc atcaacatgg
 aagcaagacc ttccttcagc aaaaagatgg aggatcagat ggtagcattt tttgtttgtt
 tttgtttttt ggttttttaa gacagtctcg ccctgttacc taggcttgaa cgcagtggcg
 caaacctccg cctcctgggt tcaagtgatt cttgtgcctc agccacctga gtaactggga
 ttataggtgc acaccaccac acacagctaa tttttgtatt tttagcagag atggggtttc
 gccatgttgg ccaggctggt cttgaactcc tggcctcaag tgatccgcct gcctgagcct
 cccaaagtgc tggaattaca ggcatgggcc aacatgccca gctcaataac gtatttttaa
 attaaggtac gtacgttgtt ttcctaaaca tagtgttatc acatacttaa caaactacaa
 tatagtataa acataacttg tgtatgaacc gggaaactaa aatattcatg tgactccctt
 tattgcaata ttcactttat tgtggtggtc tggaatgaaa cctgcaggat ctctgaggta
 tgcatgtaac cgcatacaac catcaaaatc tggaaattgg cattggtaca ttacaacaat
 ctaatcctca aacctcattc aaatttcacc agttgtccca ataacattct ttatggcaaa
 atgactgagt tcaaaatcat gtattatctt ttattgacat gtcactttta gtgtccttca
 ttctggacag ttcctccatc ttttcttgac aattatgaat attacagtta gttattgtgt
 aaaatgtccc taaatttgaa tatatctgat gtttcttcat gattagattt ggggtatgca
 tctttcacag aaatagtatg caagtggcca ggcatggtgg ctcacacctg taatcctagc
 actttgggag gccaaggcgg gcagattact tgaggtcagg agttcaaaac cagcctggcc
 tacactgtga aaccccgtct ctactgaaaa tatcaaaaaa attagccagg catgatgtgg
 gcacctgtaa ttccagctac tcgggaggct gaggcaggag aatttcttga acccgggagg
 cacagtttgc agtgagacga gatcgcacca ctatactcca gcctgggtga cagagggaga
 ctccccatct cacaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaggaaacg atgctgtttt
 tcacattgtg ttctgtcagg taacatccaa tatcagttca tctaattact aatgatatca
 cttcattagg tggtgtctga cgggcttttc cactgaaagt tacttttttt ccctttgtaa
 tcagtgatta ttttgtgaga aggtagttta taactagtta aatatccatt ctcatcacac
 tgtcTGATAT TCATTTATTA TTTTATATCA GTAGAAACTC ATAGCTTTGT TTTGTTTTTC
 TATTCAGTGC TGTTGTTACT TTTTATTATT CATATTGATG TCCACATTGT TCCAAATTTG
 CTCAGTGGGG AACCTCTTCC

  GeneView back to top
GeneView via analysis of contig annotation: BLVRA biliverdin reductase A
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_007819->NM_000712
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007819->NM_000712->NP_00070343322120forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1306742 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839004.1453420943718287plusTalt_assembly_8HuRefHuRefview450
7NT_007819.164332212043799687plusTref_assemblyreferencereferenceview450
7NW_923240.13699387143823006plusCalt_assembly_1CeleraCeleraview450
7NT_079592.24382263643872636plusCalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view450

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007819.10 AC073104 AC073104.5
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1645191HapMap-CEUEuropean 120IG 0.533 0.417 0.050 0.527 0.742 0.258
HapMap-HCBAsian 90IG 0.556 0.378 0.067 1.000 0.744 0.256
HapMap-JPTAsian 90IG 0.511 0.400 0.089 0.711 0.289
HapMap-YRISub-Saharan African 120IG 1.000 1.000
ss23143504PDR90Global 178IG 0.730 0.236 0.034 0.439 0.848 0.152
ss24196573AFD_EUR_PANELEuropean 46IG 0.522 0.435 0.043 0.584 0.739 0.261
AFD_AFR_PANELAfrican American 46IG 0.957 0.043 1.000 0.978 0.022
AFD_CHN_PANELAsian 48IG 0.417 0.500 0.083 0.584 0.667 0.333

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.301+/-0.24542235090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .