NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs7604716          
refSNP ID: rs7604716
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
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_002371.2:c.94-8848T>A
NM_022438.1:c.94-8848T>A
NM_022439.1:c.94-10470T>A
NM_022440.1:c.93+13226T>A
NT_026970.9:g.378685T>A
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 ss11520363 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7604716 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
ss11520363WI_SSAHASNP|chr2.NT_026970.9_378685fwd/TA/Ttgagtgactgagtgagtgagtgagtaagtgctgagtgactgagtgagtgagtgagtgagt07/03/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7604716|allelePos=2689|totalLen=3506|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=116
 CCTGAATCCA CCCTTGGTGG ACCCAGAACT GCTCCAGTGG GGACTGTGGC AAGACTGCAT
 GAGAGAGGAG AGGAAGGGAG AGATGGGCTA CGTTCATTAA AGTGTGTCTT TGAATGAGAT
 CCATTTCCCT GGGTGTGCCT GCCTTAGTGT TGACCATGCC ACTGTCAGCA TCTGTTAAAT
 GCGtgagtga atgaatgaat gaatgaCCAA Gtgagtgagt cagtgagtga gtaagagagt
 gagtgactga gtgactaact gagtgactga gtgagtgagt gactgagtga gtgaccaagt
 gagtgagtga gtggctgagt gagtgaccga gtgagtgact gagtgagtga gtgactgagt
 gagtgactga gtgactgagt gtgtgagtga gTGACTTAGT GACtgagtga gtgactgaat
 gggtgagtga gtgagtgagt gactgagtga ctgagtgagt aactgagtgg gtgagtgagt
 gactgagtga gtgactgagt gactgagtag gtgagtgact gagtgagtga ctgagtgact
 gagtgaccga gtgagtgagt gactgagtga gtgaatgagt gaCTGAGTTA Ctgagtgagt
 gaatgagtga ctgagtgggt gagtgagtga ctgagtgggt gagtgactga gtgggtgagt
 gaatgagtga gtgagtgggt gagtgagtga ctgagtgggt gagtgagtga gtgagtgact
 gagtgagtaa ctgagtgggt gagtgagtga ctgagtgagt gactgagtga Ctgagtaggt
 gagtgactga gtgactgagt gaccaagtga gtgagtgact gagtgagtga atgagtgact
 gagtgggtga gtgagtgact gactgggtga atgactgatg ggtgagtgaa tgagtgagtg
 agtggctgag tgagtgactg agtgggtgag tgagtgactg agtgagtgag tgactgagtg
 attgactgag tgagtgagtg actgagtgag tgactgagtg ggtgagtgag tgactgagtg
 actgagtgag tgactgagtg actaactgag tgactgagtg actgagtgag tgactgagtg
 actgagtgag tgagtgagtg agcaagcgag tgagtgaCtg agtgagtgag tgagtgactg
 agtgagtgag tgactgagtg actgagtgag tgagtgggtg agtaacagag tgagtgagtg
 actaagtaag tgagtgagtg agcaagcgag tgagtgagtg actgactgag tgactgagtg
 agtgagtgag tgggtgagtg agtgactgag tgagtgaCTG AGTCAGtgag tgactgagtg
 ggtgagtgag tgactgagtg agtgactgag tgagtgactg agtgactgtg tgagtgacta
 agtgagtgag tgagtgactc agtgagtgag tgactgagtg actgagtgtg tgagtgactg
 actgagtgag tgagagactg agtgaccgag tgggtgagtg agtgaCTTGG tgagtgagtg
 actgagtgag tgagtgagta actgagtgag tgagtgactg agtgagtgag tgagtgactg
 agtgagtgac tgagtggatg agtgagtgac tgagtgactg tgtgagtgac tgagtgagtg
 agtgagtgac tcagtgagtg agtgactgag tgattgagtg tgtgagtgaC tgactgagtg
 agtgagagac tgagtgaccg agtgggtgag tgaCTTGAtg agtgagtgac tgagtggatg
 agtgagtgac tgagtgactg tgtgagttac tgagtgagtg agtgagtgac tcagtgagtg
 agtgactgag tgactgagtg tgtgagtgac tgactgagtg agtgagagac tgagtgaccg
 agtgggtgag tgagtgactt ggtgagtgag tgactgagtg agtgagtgac tgagtgagtg
 agtaactgag tgagtgagtg gctaagtgag tgagtgacta agtgagtgag tgagtgagca
 agtgagtgag tgactgaatg agtgactgag tgactgagtg agtgactgag tgagtgactg
 agtgggtgag tgagtgactg agtgagtgag tgagtgactg agtgagtgag tgggtgagtg
 agtgactgag tgagtgactg agtgactgag tgagtgagtg agtgactgag tgactgagtg
 agtgactgag tgactgagtg ggtgagtgac tgagtgagtg agtgagtgac tgagtgactg
 agtgagtgag tgactgtgtg actgagtgag tgactgaCtg agtgagtgac tgagtgactg
 agtgggtgag tgactgactg agtaagagac tgagtgagta agtgactgac tgactgagtg
 agtgactgag tgagtgagca agtgagtgag tgactgagtg agtgaccgag tgactgagtg
 agtgagtgag caagtgagtg aatgaccgag tgactgagtg agtgactgag tgggtgagtg
 agtgactgag tgggtgagtg agtgactaag tgagtgactg agtaggtgag tgagtgaccg
 agtgactgag tgagcaagtg agtgagtgac tgagtgagtg accgagtgac tgagtgagtg
 actgagtggg tgagtcagtg actgagtgag tgagtgaCTG AGTGACtgag tgggtgagtg
 agtgagtgag tgactgattg agtgactgag tgagtgagtg agtaagtg
 W
 ctgagtgact gagtgagtga gtgagtgagt gagtgactga gtgactgaat gggtgagtga
 gtgacttggt gagtgagtga gtgactgagt gagtgactga gtgagtgagt gagtgagTGA
 CTGAGTGACT GAGTGAGTAA GTGTCtgagt gactgagtgg gtgagtgact gagtgagtga
 ctgagtgact gagtgggtga gtgagtgagt gagtgactga gtgagtgagt gagtgagtga
 ctgactgact gactgagtaa ctgagtgagt gagtgagtga gtgagtgact gagtgaatgg
 gtgagtgagt gagtgactga gtgactgagt gagtgagtga gtgagtgagt gggtgagtga
 gtgagtaagt gactgagtga ctgagtgggt gagtgactga gtgagtgact gagtgactga
 gtgggtgagt gagtgacttg gtaagtgagt gactgagtga gtcagtgact gagtgggtgg
 gtgagtgact gagtgagtga gtgaCAGTGG GTGAGTGAGT GACtgagtga gtgactgagt
 gaggactgag tgagtgagga ctgagtgagt gactgagtga gtgactgagt gactgagtga
 ggactgagtg agtgactgag tgagtgagtg ggtgagtgag cgagtgagtg actgagtgag
 tgagGGAAGC TTCCCTCTGG CTTGCTGGGA CTGAGTTCCT TCGTACCAGG AGGTAGGTAG
 GGCTAACACA AATAAAGAAG CCAAACGGTG TTACTCCTTG CCTCTCAGAA CTGGAACAGA
 GTCCCCTATC CTCCCTCTCA GATGCATTTT CTTAGGG

  GeneView back to top
GeneView via analysis of contig annotation: MAL mal, T-cell differentiation protein
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_026970->NM_002371
function
referenceNT_026970->NM_022438
function
referenceNT_026970->NM_022439
function
referenceNT_026970->NM_022440
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_026970->NM_002371->NP_002362378685forwardintron
referenceNT_026970->NM_022438->NP_071883378685forwardintron
referenceNT_026970->NM_022439->NP_071884378685forwardintron
referenceNT_026970->NM_022440->NP_071885378685forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7604716 maps exactly once on NCBI human chromosome 2
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
2NW_001838807.240885089733696minusTalt_assembly_8HuRefHuRefview2688
2NW_927964.154831790055767plusAalt_assembly_1CeleraCeleraview2688
2NT_026970.937868595068583plusTref_assemblyreferencereferenceview2688

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_026970
dbSNP Blast Analysis

  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
UNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .