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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs41555713          
refSNP ID: rs41555713
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_002127.3:c.279C>T
NP_002118.1:p.A93A
NT_007592.14:g.20654279C>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 ss20422798 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41555713 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
ss20422798DBMHC|HLA-G_454_206_0fwd/BC/Tttgggaagaggagacacggaacaccaaggccacgcacagactgacagaatgaacctgcag12/08/0601/16/08127Genomicunknown
ss86217665MGGEN|CD69fwd/BC/Tttgggaagaggagacacggaacaccaaggccacgcacagactgacagaatgaacctgcag12/18/0701/08/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs41555713|allelePos=1001|totalLen=2001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GGTCTCTATT CTATCTCATG CACTCAGGCA CAACTTTTCC AGATTTAAGG GGGAAAAAAA
 ACCCTGTCTT TACACCTACA ATCCCAGGGC GAGCTCACTC TCTGGCAACA AGCTCCCTGG
 GGTGATTTTT CTTCTAGAAG AGTACAGGAG GACAGGCAAG GAGTGGGAGG CAGGGAGTCC
 AGTTCAGGGA CAGGGATTCC GGGATGAAAA GTGAAGGGAG AGGGCCAGGG ACCTTGCCGA
 GGGTTTCTCC CTGGTTTCTC AGACAGCTCC TGGGCCAAGA CTCAGGGAGA CACTGAGACA
 GAACGCTTGG CACAAGAGTA GCGGGGTCAG GGCGAAGTCC CAGGGCCTCA AGCGTGGCTC
 TCAGGGTCTC AGGCCCCACA GGCGGTGTAT GGGTTGGGGA GGCCCCGCGT TGGGGATTCT
 CTCCTCCTTC TCCTAACCTG TGTCGGGTCC TTCTTCCTGG ATACTCACCG GGCGGCCCCA
 GTTCTCACTC CCATTAGGTG ACAGGTTTTT AGAGAAGCCA ATCAGCGTCG CCGCGGTCCT
 GGTTCTAAAG TCCTCGCTCA CCCACCCGGA CTCATTCTCC CCAGACGCCA AGGATGGTGG
 TCATGGCGCC CCGAACCCTC TTCCTGCTGC TCTCGGGGGC CCTGACCCTG ACCGAGACCT
 GGGCGGGTGA GTGCGGGGTC AGGAGGGAAA CAGCCCCTGC GCGGAGGAGG GAGGGGCCGG
 CCCGGCGGGG GCGCAGGACT CGGCAGCCGC GCCGGGAGGA GGGTCGGGCG GGTCTCAACC
 CCTCCTCGCC CCCAGGCTCC CACTCCATGA GGTATTTCAG CGCCGCCGTG TCCCGGCCCG
 GCCGCGGGGA GCCCCGCTTC ATCGCCATGG GCTACGTGGA CGACACGCAG TTCGTGCGGT
 TCGACAGCGA CTCGGCGTGT CCGAGGATGG AGCCGCGGGC GCCGTGGGTG GAGCAGGAGG
 GGCCGGAGTA TTGGGAAGAG GAGACACGGA ACACCAAGGC
 Y
 CACGCACAGA CTGACAGAAT GAACCTGCAG ACCCTGCGCG GCTACTACAA CCAGAGCGAG
 GCCAGTGAGT AACTCCGGCC CAGGGAGCAG ATCACGACCC CCACCTCCAT GCCCCACGGA
 CGGCCCGGGT ACTCCCGAGT CTCCGGGTCT GGGATCCACC CCGAGGCCGC GGGACCCGCC
 CAGACCCTCT ACCTGGGAGA ACCCCAAGGC GCCTTTACCA AAATCCCCGC GGGTGGGTCC
 GGGCGAGGGC GAGGCTCGGT GGGCGGGGCT GACCGAGGGG GTGGGGCCAG GTTCTCACAC
 CCTCCAGTGG ATGATTGGCT GCGACCTGGG GTCCGACGGA CGCCTCCTCC GCGGGTATGA
 ACAGTATGCC TACGATGGCA AGGATTACCT CGCCCTGAAC GAGGACCTGC GCTCCTGGAC
 CGCAGCGGAC ACTGCGGCTC AGATCTCCAA GCGCAAGTGT GAGGCGGCCA ATGTGGCTGA
 ACAAAGGAGA GCCTACCTGG AGGGCACGTG CGTGGAGTGG CTCCACAGAT ACCTGGAGAA
 CGGGAAGGAG ATGCTGCAGC GCGCGGGTAC CAGGGGCAGT GGGGCGCCTC CCTGATCTCC
 TGTAGACCTC TCAGCCTGGC CTAGCACAAG GAGAGGAGGA AAATGGGACC AACACTAGAA
 TATCGCCCTC CCTCTGGTCC TGAGGGAGAG GAATCCTCCT GGGTTTCCAG ATCCTGTACC
 AGAGAGTGAT TCTGAGGGTC CGTCCTGCTC TCTGGGACAA TTAAGGGATG AAGTCTCTGA
 GGGAGTGGAG GGGAAGACAA TCCCTGGAAG ACTGATCAGG GGTTCCCTTT GACCCCACAG
 CAGCCTTGGC ACCAGGACTT TTCCCCTCAG GCCTTGTTCT CTGCCTCACA CTCAATGTGT
 GTGGGGGTCT GACTCCAGCT CCTCTGAGTC CCTTGGCCTC CACTCAGGTC AGAACCGGAG
 GTCCCTGCTC CCCCGCTCAG AGACTAGAAC TTTCCAAGGA

  GeneView back to top
GeneView via analysis of contig annotation: HLA-G major histocompatibility complex, class I, G
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_007592->NM_002127
svfunction
c6_QBLNT_113893->NM_002127
svfunction
c6_COXNT_113891->NM_002127
svfunction
HuRefNW_001838980->NM_002127
svfunction
CeleraNW_923073->NM_002127
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007592->NM_002127->NP_00211820654280forward383synonymousTAla [A]393
contig referenceCAla [A]393
c6_QBLNT_113893->NM_002127->NP_002118415404forward383synonymousTAla [A]393
contig referenceCAla [A]393
c6_COXNT_113891->NM_002127->NP_0021181248427forward383synonymousTAla [A]393
contig referenceCAla [A]393
HuRefNW_001838980->NM_002127->NP_0021182871678forward383synonymousTAla [A]393
contig referenceCAla [A]393
CeleraNW_923073->NM_002127->NP_0021182863469forward383synonymousTAla [A]393
contig referenceCAla [A]393

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs41555713 maps exactly once on NCBI human chromosome 6
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
6NW_001838980.1287167829599369plusCalt_assembly_8HuRefHuRefview1000
6NT_007592.142065428029904008plusCref_assemblyreferencereferenceview1000
6NT_113893.141540429936070plusCalt_assembly_4c6_QBLc6_QBLview1000
6NT_113891.1124842729936970plusCalt_assembly_3c6_COXc6_COXview1000
6NW_923073.1286346931399148plusCalt_assembly_1CeleraCeleraview1000

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NG_002398
dbSNP Blast Analysis
GenBank HTGS Finished:
AC004172.1 AC004193.1 AL022723.4 AL645929.4 BX927141.7 CR759769.4 CT009517.12 NC_000006.10
3D structure mapping
NP_002118  

dbMHC locus: HLA-G
  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 .