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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11375171          
refSNP ID: rs11375171
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:DIP:
deletion/insertion polymorphism
RefSNP Alleles:-/A
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_005434.3:c.-108_-107insT
NT_034485.5:g.618461_618462insA
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 ss15257493 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11375171 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
ss15257493DEVINE_LAB|INDEL_GP34_WGS_393344fwd/B-/Acccatcggacgtcgcctgggagggaaaaaaaaaaaaaacgttccagccgagcaggtcctt11/13/0311/22/03120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11375171|allelePos=401|totalLen=801|taxid=9606|snpclass=2|alleles='-/A'|mol=Genomic|build=120
 TCTCGGCGCG GTCCGGTCTG GGTCCGAGGC CGGTCTCCCC CCCCCTCTCT GCAGGTGGCC
 CCTGTGCTTG CTGCCCCTCT CTCTTCTCGG TCCGGTCTGG GTCTCTCTCT TCTCGGTCCG
 GTCTGGGTCC GAGGCCGGTC TCCCCCTCCC TCTCTGCAGG TGGCCCGGGT CGGGGGTGCC
 GCACTCACCA GCTCGGGCAG GAAGAAGGCG AAAGGGATGG TGAGGAACAG CGCGACCCCC
 GAGGGCACGT CGGACGGGGC GTAGCTGGTG GCGGGCGGGT CGGGCGAGGC CATGCTGTCA
 GCCCCTGCCG GGTGCTCCGC GGCAGCTCGC CCGCGCGCAG CCTGTCAAAT ATCACCTCCT
 GCCCGACACA CCCATCGGAC GTCGCCTGGG AGGGAAAAAA
 N
 AAAAAAAACG TTCCAGCCGA GCAGGTCCTT CCACTCGCTG CAGCCAGCAG ATCCTCAGTG
 GGCGGCCCAG CGGCATCGGA TGGCTCTGCC TGGCCGGCGG GGGGCACAGC GCTGGTGCAG
 GAGGGAGCAG AGCGGGAGTC TCCTCCTAGA CCTTTCCAGC TAAGGAATCT TTGACCCCCG
 GAGCATGTTA TTCCAGGGGA TGCCAGCGAC AGCCACTCCC CTGGGCCCAG AGTGTAGGCC
 CAAGCTGCTT GGCTACGAGG GCTGCGTACT GAGGACCAAC AATGAGCCAA GCTATCTGCA
 GACAGCCCGG GTGCCCACCA CGGCCTGCAC GTGGCTGTTT TGCCCTTTTC CAAGTGAGGA
 GACTGAGAAT CAGTGAGGTC AAGTCAAGAC CACAGAGCTG

  GeneView back to top
GeneView via analysis of contig annotation: MALL mal, T-cell differentiation protein-like
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_034485->NM_005434
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_034485->NM_005434->618461:618462reverse1735' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11375171 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_001838825.139985^39986104013833^104013834plus-alt_assembly_8HuRefHuRefview400..400
2NW_921396.1130624^130625104933951^104933952minus-alt_assembly_1CeleraCeleraview400..400
2NT_034485.5618461^618462110230765^110230766plus-ref_assemblyreferencereferenceview400..400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034485
dbSNP Blast Analysis
UniGene Cluster ID
185055

  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 .