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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs634501          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001114617.1:c.1304T>C
NM_001114618.1:c.1304T>C
NM_001114619.1:c.1304T>C
NM_001114620.1:c.1304T>C
NM_002406.2:c.1304C>T
NM_002406.3:c.1304T>C
NP_001108089.1:p.Leu435Pro
NP_001108090.1:p.Leu435Pro
NP_001108091.1:p.Leu435Pro
NP_001108092.1:p.Leu435Pro
NP_002397.2:p.Leu435Pro
NT_023133.12:g.25028254A>G
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 ss44678484 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs634501 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
ss807160SC_JCM|AC023255.3_107785byFreqfwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc07/27/0004/07/0483Genomicunknown
ss914324KWOK|OVLP-000804-213948rev/BC/Tggggccgccgtgtccacctggcgcccccacgacgtgggagggctatgatcctagctggaa09/01/0010/10/0386Genomic99 %
ss1536303LEE|674236rev/BC/Tggggccgccgtgtccacctggcgcccccacgacgtgggagggctatgatcctagctggaa09/13/0010/10/0386cDNAunknown
ss3191309YUSUKE|IMS-JST017220rev/BC/Tggggccgccgtgtccacctggcgcccccacgacgtgggagggctatgatcctagctggaa08/07/0110/10/0398Genomicunknown
ss16240523CGAP-GAI|1478186rev/BC/Tggggccgccgtgtccacctggcgcccccacgacgtgggagggctatgatcctagctggaa11/18/0311/22/03120cDNAunknown
ss28510389MGC_GENOME_DIFF|BC003575x37550440-A3309935Gfwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc08/25/0408/25/04126cDNAunknown
ss44678484ABI|hCV1154015byFreqfwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc07/19/0511/03/06126Genomicunknown
ss48407978APPLERA_GI|hCV1154015byFreqrev/BC/Tggggccgccgtgtccacctggcgcccccacgacgtgggagggctatgatcctagctggaa09/28/0511/03/06126Genomicunknown
ss74886919ILLUMINA|ILMN_Human_1M_rs634501fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc08/28/0708/29/07129Genomicunknown
ss80163568HGSV|Cor18507_SNV_20070510.chr5_180151274fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc11/23/0711/24/07130Genomicunknown
ss93360636BCMHGSC_JDW|JWB-2084440fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc02/26/0803/04/08129Genomicunknown
ss98794131HUMANGENOME_JCVI|1103654311301fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc04/01/0804/01/08130Genomicunknown
ss105973595BGI|BGI_rs634501fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc09/12/0806/18/09130Genomicunknown
ss1096797161000GENOMES|CEU.trio.12.15.2008_1430527_chr5_180151274fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc12/15/0812/16/08130Genomicunknown
ss1137648721000GENOMES|NA19240_2008_12_16_1287485_chr5_180151274fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc12/18/0812/18/08130Genomicunknown
ss116932098ILLUMINA-UK|NA18507_000227509_NCBI36.1_chr5_180151274fwd/TA/Gttccagctaggatcatagccctcccacgtcgtgggggcgccaggtggacacggcggcccc01/17/0901/18/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs634501|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CAACAAGCCC AGTGCCCCCC ACCACACAGT GGTTTCCTGC TTAATACCCC GCAACATACC
 CTAGAATAGT TCCCCTGATC TGACTCCCTT GAGAACGGGA GAATAATCCT CTTGTTATCA
 TTTGTGCACT TAAATGCCAC TCGGAAAAAT CAAAAAGATA AATGCACCTA AGAGGGAAAC
 ACAGGCAGGC CGATGCAGCC TGGGGACTGT GGTCCCACCT CAGCTCATGA TGTGGCAAGG
 AGGGGCCCAG GAAGGACAGG CAGGTGCTAA TTCCAGCTAG GATCATAGCC CTCCCACGTC
 R
 GTGGGGGCGC CAGGTGGACA CGGCGGCCCC GGAACTGGAA GGTGACAATA CCCCGGTAGC
 CAGCTCTCGG AACCCCCGAC TTAAGGTCAT CCATGACACC CAGAGCCTTG GCGAAAGCCT
 TGAAGCTGTC CCTGCCCGTA TACTGCACCC GCACCTCCCC CAGCTCCTTC CGGTCATTGG
 TCCTCACTTT CTCCACCTGC AGCTGGGGAG CACCGTAGAC GCGGGCGAGG AAATCTCGGT
 CATAGGCCTC CCGCTGCAGG TAAGACAGGT CCAGCTGGGT GAAGTGCACA AACTGCTGGT

  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
GenBank
NM_002406 ABBA01010082 AC022413 AC023255.3 BC003575 BQ952706 Hs.151513
dbSNP Blast Analysis
UniGene Cluster ID
519818

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss44678484 HapMap-CEU European 120 IG 0.017 0.033 0.950 0.001 0.033 0.967
HapMap-HCB Asian 88 IG 0.250 0.409 0.341 0.251 0.455 0.545
HapMap-JPT Asian 88 IG 0.114 0.500 0.386 0.655 0.364 0.636
HapMap-YRI Sub-Saharan African 120 IG 1.000 0.584 1.000
ss48407978 AGI_ASP population multiple 48 IG 0.292 0.042 0.667 0.001 0.312 0.688
ss807160 CEPH 184 AF 0.230 0.770

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.315+/-0.241 1245 1039 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .