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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs822630          
refSNP ID: rs822630
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_014236.2:c.261+3630G>A
NT_004559.13:g.7592673G>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 ss2022958 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs822630 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
ss1102691KWOK|OVLP-000804-204346fwd/BC/Ttccagtctgggagacagagggagactctgtgcaaaaaaaaaaaaaaatttttttcggccg09/02/0010/10/0386Genomic99 %
ss2022958KWOK|OVLP-000925-614260fwd/BC/Ttccagtctgggagacagagggagactctgtgcaaaaaaaaaaaaaaatttttttcggccg10/06/0010/10/0387Genomic99 %
ss3612100SC_JCM|AC011945.4_106069rev/TA/Gcggccgaaaaaaatttttttttttttttgcacagagtctccctctgtctcccagactgga09/24/0110/10/03117Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs822630|allelePos=2351|totalLen=3531|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=117
 CCGTGACTGC AGCAGAGCAG AAGACAACTG ATCTCTTACT CTATGCAATT AGGCTTTTCA
 TTTGCCCAGC AGATACACCT TCATAGAAAC CTAATATAAG ACTTAACAGA TGAGCAATAG
 TCTTATAACT AACTCCTCGC TTCATTTTTC TGACTCTTCA GTCTCTTCTC CACATTATAA
 ACTTGAGACA TCTCTTAAAT GCAAAAGTAA TCACATCTTT CCTTGGCTAa gaccccttca
 atggctacta ttgtattctg tgagataaag gcagactgag ttagaaaggt ggcagcagag
 gtggagatac atagacagga agagacattt aacagagaaa attggccggg cgcagtggct
 cacgcctgta atcccagcac tttgggaggc cgaggcgggc ggatcacgag gtcaggagat
 cgagaccatc ctggctaaaa aagtgaaacc tcgtctctac taaaaataca aaaaattagc
 tgggcgtggt ggtgggtgcc tgtagtccca gctacttggg aggctgaggc aggagaatgg
 tgcaaacctg ggaggcggaa cttgcagtga gcccagatcg cgccactgca ctccagcctg
 ggcaacagag caagactccc tctcaaaaaa aaaaaaaaaa aaaaagagaa attagcagtc
 ttagtgactg acagcgtatg aaagaaaagc aagaagttga agatggcatc cagatttgtg
 gtggtttggt caaccagtgc atggaggggc cattcctgga gacagggaaa actgggtggg
 ggtaggaggt aatatatctt agacacctgg ctcaggggta ggggtgggag gggtaaagag
 taccactcat acataatgaa tttgaggtgc tatggaaagt ccaagcgggt attctagtag
 acatataaaa acagatacat gaaactcaaa agagatctgg gctgaaggaa tagatattat
 ttatccatgt tcttattatg ttattattta taatagggag atgtcagcat aaggaaagta
 cttaaaattc tggcaattaa taaaactgcc cagtgactgg gtagaataaa accagaggct
 ggaataaaat cctgacgcat tccatcattt aaagagacag gcaaaggaaa agcccataaa
 agcaaatgag gaatgattaa aaagacatgg ggcttagggt gatggtatgg tgtcatgaaa
 agaaaggaga aagagcaaga gccaacgact attacagctt tgaaacaggt agaatttacc
 cataaggaag tcatttacaa cctcagaaag agccatgaca gtggatgaga aactggattc
 cagcaagttg agtagtaaat gaaggatgag gaggtgtgat ggtaagcatg gacaacgtgg
 ccaattttga gccaggtaca gtggctcaca cctgtaatcc cagcacttta ggaggccaag
 gcagaaggat cgcttgaggt caggagttca agctcagcct gggcaacata gcgggatcct
 gtcctacaaa aaattttaaa aaacaaaaca aaaaaagctg ggcatggtgg cacatgtctg
 gggttcaagc tacttaggag gctggggcag gaagatcgct tgagcccagg agttcaaggt
 tacagtgagc tatgatcatg ccactgtact ccagcctggg tgacagagag atcctgtctc
 taaagaataa cacaaatcaa tttcttaaaa gaggaggaga gaggtagacg agggggaaga
 aagagatagt aactagagaa ggcatggggt taaaggatgt aggtctattt aaactgggag
 agaagtaaat atgctaaatg ctgatgggag aagagctaat aaagaagtag ttgaagaaat
 aagaagggat agtcaggaga gcaaagttcc tgaggatgag ggagagggtg gaatttagaa
 caaaggaata gggtagggat taaactcaaa caggagaagg gatttcttct attttaacag
 gagaaaataa tgagtactgg atgcaggtaa attggtagat ttgatcacag gaagttgaga
 gagcactaac aatagtttaa attttctttg tggttggggg cagtggctcg cacctgtaat
 cccagtgctt tgggaggctg aggtgggcgg attacctgag gtcaggagtt caagaccagc
 ctggtcacca tggtgagacc ccatctctac tgaaaataca aaaaattagc caggcgcagt
 ggtgggtgcc tgtaatccca gctacttggg acgctgaggc aggagaatca cttgaacctg
 ggaggcggag attgcagtga accgagattg tgcaccgcac tccagtctgg gagacagagg
 gagactctgt
 Y
 gcaaaaaaaa aaaaaaaTTT TTTTCggccg gacgcaatgg ctcacgccta taattgtagc
 actttgggag gccaaggcgg gtggatcacg aggtcaggag atcaagacca tcctgactaa
 caaggtgaaa ccctgtctct actaaaaata caaaaaaaaa aaaattagct gggcatggtg
 gcggacacct gtagtcccag ctactcagga ggctgaggca ggaggatggt gtgaacccgg
 gaggcagagc ttgcagtgag ccgagatcgc gccactgccc tccagcctgg gtgacagagc
 gagactccgt ctcaaaaaaa aaaaaaattt ttcactgtga cactggaaga aaaaccatct
 gctgagagta agaagaggag gcagggctgg aagttcaagg agagtggggc tgctaaaact
 gtcattttgg agaatgaaaa acagttcact agggaaacag aattactggg gaatatggaa
 ggcccagttg tgctgcctaa ttatgaattt gtacgattcc aatctatctt agtttatgtg
 atttttctca gcagcacaGC CAAGTCAGAG AAACACTGGC CTGAATAAGA TCTTTTAAAT
 TGGTAACAct taacctgggt gtgcattaga attatttgag gagttttaaa gaaaagcaga
 aggctgggca tggtggctca tgccagtaat ccagcacttt gggaggccga ggtgggcgga
 tcacctgagg tcaggagttt gagaccagcc tggccaacat gatgaaaccc tgtctctact
 aaaaatacaa aaattagccg ggtgtggtgg caggcgcctg taatcccagc tactcgggag
 agagatgcct gggtcctatc ccagaccagt taaatcagaa tctctgtaga tgggaccatg
 gcctcatttt taaaaattca ctaattcaac aaatattgat tgaatgtcta ctatgtgtta
 ggcactggga atacggcagt gaaaaaagag acaggaattc ttgccttcat ggagtttacc
 tcctagtaga taataaTAGT AACTTTTGCA AAAGTTCTCC AAGTGCTTCT ATAAGGAAGA
 ACTAACTGCT GTTGTTAGCA TCTAATTGAT GAGGAAACTT GACTTCACTT ATGAAATAGG
 CCCAACCTGA TAAAACTGAT AGCCTCTCCA GGATATGTAA

  GeneView back to top
GeneView via analysis of contig annotation: GNPAT glyceronephosphate O-acyltransferase
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_004559->NM_014236
svfunction
HuRefNW_001838549->NM_014236
svfunction
CeleraNW_927128->NM_014236
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004559->NM_014236->NP_0550517592673forwardintron
HuRefNW_001838549->NM_014236->NP_055051917473forwardintron
CeleraNW_927128->NM_014236->NP_0550517236554forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs822630 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838549.1917473201873903minusGalt_assembly_8HuRefHuRefview2350
1NW_927128.17236554204655384minusGalt_assembly_1CeleraCeleraview2350
1NT_004559.137592673229457142minusGref_assemblyreferencereferenceview2350

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC011945.3 AL137801 AL137801.2 AL137801.4
dbSNP Blast Analysis
GenBank HTGS Finished:
AL137801.11 NC_000001.9

  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

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Revised: May 25, 2006 1:38 PM .