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: rs2592785          
refSNP ID: rs2592785
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_024622.2:c.447-2861G>A
NT_005403.16:g.20632139C>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 ss9949860 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2592785 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
ss3645561SC_JCM|AC016772.6_116480fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc09/24/0110/10/03100Genomicunknown
ss9949860BCM_SSAHASNP|chr2.NT_005403.13_20582059fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc06/27/0310/10/03116Genomicunknown
ss11471840WI_SSAHASNP|chr2.NT_005403.13_20582059fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc07/03/0310/10/03116Genomicunknown
ss16235964SC_SNP|NT_005403.14_20632138fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc11/18/0311/22/03120Genomicunknown
ss21728803SSAHASNP|WGSA-200403-chr2.chr2.NT_005403.14_20632138fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc03/20/0403/20/04121Genomicunknown
ss23107504WUGSC_SSAHASNP|WUGSC_WUchr2_SNPS_200403.chr2.NT_005403.14_20632138fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc03/22/0403/22/04121Genomicunknown
ss41709212ABI|hCV16047689fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc07/17/0507/17/05126Genomicunknown
ss78626378HGSV|Cor18507_SNV_20070510.chr2_170248228fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc10/19/0710/20/07129Genomicunknown
ss96446790HUMANGENOME_JCVI|1103658284870fwd/BC/Tagtagctgaaactacaagcgtgtgccaccagcccagctggttctatatttttaaaaagtc03/26/0803/26/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2592785|allelePos=2087|totalLen=3050|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CTAGTATAAT TTTTATACAT TATTTTTCTG TAAAGTTTAT TTAAAAAGAA ACAAAAAAAT
 TTAAGAGACA CAGTAATTGT GAACCTTACT CAGAAACTGA TTTAAATAAA CTGCCTATAA
 AAAGACCTTT ATAAGACAAT CAACAAAATT TGAACACAGA CAAGGTACTA GGTAATATCG
 AAAATTTAAA TTTATCAAtt ttattatgtt tttaagacac agtgtctcac tgtgttgccc
 aggctgaact tgaacatcta ggctcaagtg atcctccaac ctcagcattt ttattaaaat
 taaaaaaaaa attttttttg tgggtacata gtaggtacat atatttatgg ggtacatgag
 atattttgat acaagcatgc aacgcaaaat aaacacatca tgaaaaatgg agtatccatt
 ccctcaggca tttatccttt gagttacaaa caatccaatt acgttctaag ttactttaaa
 atgtataatt aagttattat tgactatagt caccctgttg tgctgtcaaa tagtaggtct
 tattcatttt attttttttt acccattaac catccccacc tcccccacaa tcgcccgtta
 cccttcccag cctctggtaa ccatcgttct gctctctacg tccattagtt caattgtttt
 gatttttagc tcccacaaat gagtgaaagc atgcgacgtt tatctttctg tgcctggctt
 atttcactta acataataat ctccagttcc acccatgttg caaatgacag gatatcattt
 tttttacggc tgaatattac cccattgtgt atatatacca catttttctt tttttttttt
 ttttttgaga cgcagtttcg ctcttgttgc cccaggctgg agtgcaatgg cgcgatctcg
 gttcactgca acctccgcct cccaggttca aacaattctc ctgcctcagc ctcccgagta
 gctgggatta caggcatgca ccaccatgcc cagctaattt tgtattttta gtagagacag
 ggtttctcca tgttgaggct ggtctcgaac tcctgacctc aggtaatcag cccgcctcgg
 cctccgaaag tgctgggatt acaggcgtga gccaccacac caggcttttt tttttttttt
 tttttttttt ttttttgaga gggagtctcg ctctgtcacc caggctggag tgcagtggcg
 cgatctcggc tcactgtaag ctccgcctcc cgagttcacg ccattctcct gcttcagcct
 caggagtagc tgggactata ggcgcccgcc accacgcccg gctaactttt tgtattttta
 gtagagacgg agtttcacct tgttagccag gatggtctcg atctcctgac ctcatgatcc
 gcccgccttg tcctcccaaa gtgctgggat tacaggcgtg agccaccgcg cccagccacc
 acattttctt tatccattca tctgttgatg gacacttatg ttgctttcaa atcttagcta
 ttgtatacag tgctgcaata aacgtaagag tacagatatc tcttcaatat attgatttcc
 tgtcttttgg gtatataccc aggcagtggg attactggat cacatgctag ctcaattttt
 agtttttggg ggaacctcca aactgttctc catagagctt atactaattt acattcccaa
 aaacagtgtg cagggttccc ttttctccac atccttgcca gcatttgtta tggcatgtct
 tttggatata agccatttta actgtggtga gatgatgtct cattgtagtt ttgatttgca
 tttttctgat gttgcacctt ttcatatgcc tgtttgccat ttgcacgggt cttttgagaa
 atctctactc aaatcttttg cccatttttt gattggatta ttagactttt tcctaattag
 agttgtttga gctccttata tattctggtt attaatccct tgtcagatgg gtagtttgcc
 aatattttct acccttctgt gtactctcgc ttcactttgt tgattgtatc ctttgctgtg
 ccacctcagc cttctgagta gctgaaacta caagcgtgtg ccacca
 Y
 gcccagcTGG TTCTATATTT TTAAAAAGTC Cttagagaaa catactgagg tatttaaaga
 tgaaatgata ttatttaaaa tatactgaag tatactgaga gtgggagggg atatagataa
 aacaagactg gctatgtgtt gacaattgtt gaagctggag gatgggtaca tgggaattcg
 ttgtactact ctttctcctt ttgtaaatgt taaaaatatt ctaTAATAGA AAGTTTTTTA
 AAAAAAATTT GGATTTCttg ggaggccaag gtaggaggat tccttgagcc caggagttca
 agaccaacct ggcaacatgg cgaaatccca tctctactaa aaatataaaa attagctggg
 cgtggtggca tccacctgtg gtcccagaaa cttgggaggc tgagatagga cgatggcttg
 agcctggaag tctgaggctg cagtgagccc tggttgtacc actgtactcc accctgggta
 acagagccaa accctatccc aaaagaaaaa aaTATATATG GATTTCAAAT ACATGTTAAT
 TATCCTTGCC ATGATTCATC ATATAGTACT AATCCAGAAT AATCTACCCC ATTTAAATCA
 TTACAAATTA TATTTATAAA ACAggctggg cacagtggct cacacctgta atcccagcac
 tttgggaggc caaggtgggc agatcacgag gtcaggagtt tgagaccagc ctggccaata
 tggtgaaacc ctgtctctac taaaaataca aaaattagct aggtgtggtg gcaggtgcct
 gtagtcccag ctacttggga ggttgaggca ggacaatcac ttgaacccag gaggcggagc
 ttgcagtgag ctgagatcac accactacgc tcccgcctgg gcaacagagc gagactctgt
 ctcaaaaaaa aaaaaaCATA AGTTTATAGA TATTTTAGCA AGATCATTGT ACTTCTGAGT
 TAT

  GeneView back to top
GeneView via analysis of contig annotation: FASTKD1 FAST kinase domains 1
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_005403->NM_024622
function
HuRefNW_001838861->NM_024622
function
CeleraNW_921585->NM_024622
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_005403->NM_024622->NP_07889820632139reverseintron
HuRefNW_001838861->NM_024622->NP_07889897675reverseintron
CeleraNW_921585->NM_024622->NP_07889838231382reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2592785 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_001838861.197675162313209plusTalt_assembly_8HuRefHuRefview2086
2NW_921585.138231382164041579plusTalt_assembly_1CeleraCeleraview2086
2NT_005403.1620632139170130967plusCref_assemblyreferencereferenceview2086

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005403 ABBA01014890 AC068884
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
byClusterUNKNOWNUNKNOWNUNKNOWN

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 .