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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs910          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000550.1:c.*845C>A
NM_000550.2:c.*853A>C
NT_008413.17:g.12700035A>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 ss61706485 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs910 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
ss932WIAF|WIAF-1280fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt01/23/9912/23/0336cDNAunknown
ss9399CGAP-GAI|50004byFreqfwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt08/23/9904/07/0452cDNA99 %
ss1546130LEE|912476fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt09/13/0010/10/0386cDNAunknown
ss2377176TSC-CSHL|TSC0410524byFreqfwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt10/20/0004/07/0488Genomic95 %
ss3901783SC_JCM|AL138753.8_88094fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt09/25/0110/10/03100Genomicunknown
ss4431616LEE|e912476fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt04/26/0210/10/03106cDNAunknown
ss5799400SC_JCM|NT_027081.8_1811457fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt01/10/0310/10/03111Genomicunknown
ss16241710CGAP-GAI|1480538rev/BG/Taatacataaaaggctgataaatgataagagaatgctatttaaattaagcacagtgattgg11/18/0311/22/03123cDNAunknown
ss22840923SSAHASNP|WGSA-200403-chr9.chr9.NT_008413.16_12700035fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt03/21/0403/22/04121Genomicunknown
ss24430109PERLEGEN|afd0864098byFreqfwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt08/10/0409/13/04123Genomicunknown
ss43737220ABI|hCV3119205fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt07/18/0507/18/05126Genomicunknown
ss61706485SI_EXO|NT_008413.16_12700035byFreqfwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt07/11/0608/14/07127Genomicunknown
ss75107462ILLUMINA|ILMN_Human_1M_rs910fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt08/28/0708/29/07129Genomicunknown
ss94014199BCMHGSC_JDW|JWB-2560939fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt02/26/0803/05/08129Genomicunknown
ss97707946HUMANGENOME_JCVI|1103652027574fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt03/30/0803/30/08130Genomicunknown
ss1086102341000GENOMES|CEU.trio.12.15.2008_2136391_chr9_12700035fwd/TA/Cccaatcactgtgcttaatttaaatagcatttcttatcatttatcagccttttatgtattt12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs910|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TATTAATTAA AGAAAATTAA TTATGTGTAG TTATAAACCA ATGAAATTTT GATTAACCTT
 TTCAAATTAA TGTTCCAGTT TGAAGACCAA TCAAATATAT TATTTAGTCA ACATATACTA
 TTTAGTCTCA GGTTCAAGGC TACAACAAAA ATCACCATCT TTGTCAAACT TTGGAGAGGG
 AAAATCTTCA CTTTCTTAAG CAACAATGGA TATTGCCTGT GTTTGCCACT GTGTTTCCCT
 GCCTCTCAAT TCGCTGAAAA AGGAACTACC TATCCTTACA TTTCACCTAC TAATGTCTCT
 TCTAACATCT TAGAGGTCCA TGGAGAAGGC ATATGGAGAA CATGTTTTAT ACTGCTCTAT
 AAATAGTATT CCAATCACTG TGCTTAATTT AAATAGCATT
 M
 TCTTATCATT TATCAGCCTT TTATGTATTT TCCAAGTAAA ATATTAACAT ATTATTTCAT
 TGGTCTTCTT TTTTATCTGG TTCTATATGA ATGCTATTTT TTCCCTTCTC TTCTAACATG
 AAATATATTT TCTCTTTTTG ATCTTGTGCT ATGAAACAAT CTTCCAAAGA ACTGTATAAG
 GTGGTCATAA GTGAATATTT TAATTAAAAT TGGTAAAAAT AAATAATAAC AGTAATAATC
 ATGCACTATA GAAAATGGCT AAACTGAGAT TCTAAATTCT ACAAACAGAA ACAAGTTTAA
 GTTATGTATC CCTGATTGGT TACTGGGTTT TCCTATATTC AAAAATATTA AGGCTATATA
 TACACAAGAT AAACAAATAA AATATATCAA AGAGCATGCA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
dbSTS GenBank
G05859 X51420 ABBA01065320 AF001295 AI288506 Hs.75219 NM_000550
dbSNP Blast Analysis
UniGene Cluster ID
270279

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 HWP A
 C
ss2377176 CEPH 184 AF 0.310 0.690
ss24430109 AFD_EUR_PANEL European 48 IG 0.125 0.542 0.333 0.527 0.396 0.604
AFD_AFR_PANEL African American 46 IG 0.609 0.304 0.087 0.439 0.761 0.239
AFD_CHN_PANEL Asian 46 IG 1.000 1.000
ss61706485 HapMap-CEU European 120 IG 0.100 0.367 0.533 0.283 0.717
HapMap-HCB Asian 90 IG 0.978 0.022 0.989 0.011
HapMap-JPT Asian 88 IG 0.955 0.045 0.977 0.023
HapMap-YRI Sub-Saharan African 120 IG 0.783 0.217 0.892 0.108
ss9399 POOLED_CEPH 188 AF 0.687 0.313

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.379+/-0.214 1264 1052 15 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN YES UNKNOWN

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Revised: May 25, 2006 1:38 PM .