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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4746          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_006708.2:c.332A>C
NP_006699.2:p.Glu111Ala
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 ss76896338 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4746 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
ss5424DEBNICK|cSNP-148fwd/TA/Ctgacacacaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga06/04/9910/10/0352cDNAunknown
ss13294CGAP-GAI|56889fwd/TA/Ctgacacacaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga08/23/9910/10/0352cDNA99 %
ss1523026LEE|353517fwd/TA/Ctgacacacaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga09/13/0010/10/03102cDNAunknown
ss3863270SC_JCM|AF146651.1_4819byFreqfwd/TA/Cttttggagaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga09/25/0110/25/06130Genomicunknown
ss4414243LEE|e353517fwd/TA/Ctgacacacaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga04/26/0210/10/03108cDNAunknown
ss20275576CSHL-HAPMAP|CSHL-HuFF-200402.chr6.NT_007592.13_29447755rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa02/21/0403/04/04130Genomicunknown
ss24369377PERLEGEN|afd0327535byFreqrev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa08/10/0409/13/04130Genomicunknown
ss24780521SEQUENOM|sqnm6537rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgtgtgtca06/18/0406/18/04130cDNAunknown
ss24790947SEQUENOM|sqnm99277rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgtgtgtca06/18/0406/18/04130cDNAunknown
ss28505662MGC_GENOME_DIFF|BC015934x29804415-T29447755Grev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa08/25/0408/25/04130cDNAunknown
ss44730940ABI|hCV8332900byFreqrev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa07/19/0511/03/06130Genomicunknown
ss48426526APPLERA_GI|hCV8332900byFreqrev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa09/28/0511/03/06130Genomicunknown
ss65727144ILLUMINA|Human1-rs2736654fwd/TA/Cttttggagaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga10/10/0610/10/06130Genomicunknown
ss65844868KRIBB_YJKIM|KHS20664byFreqfwd/TA/Ctttgtagcaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga10/17/0612/16/06130Genomicunknown
ss68974093PERLEGEN|PGP00327535byFreqrev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa01/30/0708/14/07130Genomicunknown
ss74809378AFFY|SNP_M-181962fwd/TA/Ctttgtagcaattggggcactgaagatgatggacccagagttaccacaatggcaattcaga08/09/0708/09/07130Genomicunknown
ss76877574CGM_KYOTO|719910rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa09/12/0709/12/07129cDNAunknown
ss76896338SI_EXO|NT_007592.14_29508878rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa09/20/0709/20/07129Genomicunknown
ss86345529CANCER-GENOME|9238rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa01/25/0801/25/08129Genomicunknown
ss95213655CNG|18098289rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa03/13/0803/13/08129Genomicunknown
ss1099764711000GENOMES|CEU.trio.12.15.2008_1501354_chr6_38758606rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa12/15/0812/17/08130Genomicunknown
ss116426986ILLUMINA-UK|NA18507_000061994_NCBI36.1_chr6_38758606rev/BG/Ttctgaattgccattgtggtaactctgggtccatcatcttcagtgccccaattgctacaaa01/17/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4746|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 GGCTTAGATA TGAGTCTGTG ACTCTAAACA AGTAAGTGGC AGTTTCATCA ATAGAATGGA
 GATGTTCACA CCTAGCCCAT GGAGCTGTTT TAAGGGTTTA AATGAAATAT AAAGTACTTA
 GCACAATAAA TGAGCATTAT TATTATTCTT ATTATTGTTC TTGTCCAGTA CCTGTATTTA
 CTGTCTCTTT AGTCTCGTTA AAATCATACT TTGGCCATTT GTCCTTTCTA TAGTTGAAAA
 CTTAATATTT TTGTAGCAGG GGTTAGGCCA ATTATGTAAA GTAGCATATA AACGTGGTAA
 GATTTCAAAG ATGTTACTTG CTTTTCAGAA TATCTATTCC CTAGGACATT GTAGCTATGT
 TTTCCTTCCT TTTGTAGCAA TTGGGGCACT GAAGATGATG
 M
 GACCCAGAGT TACCACAATG GCAATTCAGA CCCTCGAGGA TTCGGTAAGT TTGCCTGTTT
 TTATGTGATA TATGTAGATT TGTGTGATTT TGTATTATGT ATATAATTAT GATTTTAATA
 AACCTAAAAC ATTAATGTCC TAATTAAGTA TGATCAATTT ATTAGAGATA TGATTATTTT
 TATTTTCCAC AAATAATCTT ATTTAGGAGT TGTTTAATTT CAGAGTCTCG ATCTAAAATT
 ACACTTACCA TCTCACCATG ATTTACTTTT AAGTCTCAGA ATTAATTTCC AGTAGACTTT
 TTTTTTTAAA AAAGCTGTAG TTAATACTAA TCCCAGTTTC TGCTAGCACA TACACTTCTG
 CCTTGATCTC CAGTCTCTCA ATCAAGATGA CAGTATTGCA

  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
sqnm6537 sqnm99277 S83285 AL391415 BC015934 D13315 Hs.75207 L07837 S83285
dbSNP Blast Analysis
UniGene Cluster ID
268849

  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
 N
ss24369377 AFD_EUR_PANEL European 48 IG 0.375 0.542 0.083 0.371 0.646 0.354
AFD_AFR_PANEL African American 46 IG 0.565 0.391 0.043 0.752 0.761 0.239
AFD_CHN_PANEL Asian 48 IG 0.750 0.250 0.527 0.875 0.125
ss3863270 CHMJ Asian 74 IG 0.919 0.054 0.027
ss44730940 HapMap-CEU European 120 IG 0.300 0.450 0.250 0.479 0.525 0.475
HapMap-HCB Asian 90 IG 0.778 0.222 0.403 0.889 0.111
HapMap-JPT Asian 88 IG 0.932 0.068 1.000 0.966 0.034
HapMap-YRI Sub-Saharan African 120 IG 0.550 0.367 0.083 0.655 0.733 0.267
ss48426526 AGI_ASP population multiple 76 IG 0.342 0.526 0.132 0.584 0.605 0.395
ss65844868 KHP1 180 AF 0.778 0.222 0.251 0.889 0.111
ss68974093 HapMap-CEU European 120 GF 0.300 0.450 0.250 0.525 0.475
HapMap-HCB Asian 90 GF 0.778 0.222 0.889 0.111
HapMap-JPT Asian 90 GF 0.933 0.067 0.967 0.033
HapMap-YRI Sub-Saharan African 120 GF 0.550 0.367 0.083 0.733 0.267

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.357+/-0.226 619 497 276 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .