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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9974157          
refSNP ID: rs9974157
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001040424.1:c.751+3139T>A
NM_022115.3:c.1738+3139T>A
NT_030188.4:g.258501A>T
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 ss13816240 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9974157 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
ss13816240WUGSC_SSAHASNP|chr21.NT_030188.3_13386fwd/BA/Tcctgggtgacagggcaagaccttgtattgtaaaaaaaaaaaaaaaaaaaagaaagaaaga11/05/0311/22/03119Genomicunknown
ss21805047SSAHASNP|WGSA-200403-chr21.chr21.NT_030188.3_13386fwd/BA/Tcctgggtgacagggcaagaccttgtattgtaaaaaaaaaaaaaaaaaaaagaaagaaaga03/20/0403/20/04121Genomicunknown
ss41458063ABI|hCV29995420fwd/A/Tcctgggtgacagggcaagaccttgtattgtaaaaaaaaaaaaaaaaaaaagaaagaaaga07/17/0507/17/05126Genomicunknown
ss85344440HGSV|Cor18517_SNV_20070510.chr21_42137129fwd/A/Tcctgggtgacagggcaagaccttgtattgtaaaaaaaaaaaaaaaaaaaagaaagaaaga12/06/0712/09/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9974157|allelePos=501|totalLen=733|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=130
 ATTGTATCCT ACACGCAGAG GACATGTGCC ATCTTTTCTG GCCATCCAGC ACTGTGAAAC
 ATCCTTGTGA TGTTTCGCCA ACTTCTGAGC CCCACCTTTC CCAAAACACT CCTTTCCCAA
 ACTCTCCTGC CCTGAATGCA GGTTTGTGCC ATAGCTCTGT GAGCAATGTG AGGCTGCAGG
 GGGCCTGAGA ACACATTTTC TGGCATGGTG AAGGCATTGG GCTTTCAGAG ACAGCACAAG
 TTTGGCCCTG AGGCCACCGT CAGTATGGGT GGCAATGTCC CTGCCATGTG GGCCTGTCTG
 GGACAGCCTT GTTATGGAAT CCTGAGCAAC AGAGCAAGAC CCTGTCTGTA CAATTAGACC
 tgttgacatt cacctgtagt tccagctact tgggaggtca aaatgagagg atcatttgag
 cccatgagtt tgaggctgca atgagctaag atcacaccat cgcattcctg cctgggtgac
 agggcaagac cttgtattgt
 W
 aaaaaaaaaa aaaaaaaaaa gaaagaaAGA AAGTTTAAAT TCAGAGCACT GGTGGTTTGG
 TTTGGAAGTT ACCCAACTTG AAAGAAGAAG CAAAAATCTG TCAAATTTGA TTCTAAAACT
 ACAAAACCTC TTCAATAGCC CTTCCAACAC TTCCTACACC AACTCACAAA AGGCAGCTTC
 ACATCCCTTG AGATCAGAGA GGAAATGAGA CAAATGGACA CCGTTTGCCT CA

  GeneView back to top
GeneView via analysis of contig annotation: PRDM15 PR domain containing 15
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_030188->NM_001040424
svfunction
referenceNT_030188->NM_022115
svfunction
HuRefNW_001838714->NM_022115
svfunction
CeleraNW_927384->NM_001040424
svfunction
CeleraNW_927384->NM_022115
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_030188->NM_001040424->NP_001035514258501reverseintron
referenceNT_030188->NM_022115->NP_071398258501reverseintron
HuRefNW_001838714->NM_022115->NP_071398566763forwardintron
CeleraNW_927384->NM_001040424->NP_00103551427896691reverseintron
CeleraNW_927384->NM_022115->NP_07139827896691reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9974157 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
21NW_927384.12789669128411568plusTalt_assembly_1CeleraCeleraview500
21NW_001838714.256676328682108minusAalt_assembly_8HuRefHuRefview500
21NT_030188.425850142137129plusAref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030188
dbSNP Blast Analysis
GenBank HTGS Finished:
AP001618.1 NC_000021.7

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .