Product Details

SNP ID
rs199786495
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:29593671 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAAGGGGCCCGAGGGCAAGTATC[C/T]GCTGCACTACCTCGTGTGGCACAAC
Phenotype
MIM: 615124 MIM: 608434
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD13B PubMed Links

Gene Details

Gene
ANKRD13B
Gene Name
ankyrin repeat domain 13B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152345.4 163 Missense Mutation CCG,CTG P17L NP_689558.4
XM_005257920.4 163 Missense Mutation CCG,CTG P17L XP_005257977.1
XM_011524319.2 163 Intron XP_011522621.1
XM_011524320.2 163 Missense Mutation CCG,CTG P17L XP_011522622.1
XM_011524321.2 163 Missense Mutation CCG,CTG P17L XP_011522623.1
XM_017024174.1 163 Intron XP_016879663.1
XM_017024175.1 163 Intron XP_016879664.1
XM_017024176.1 163 Intron XP_016879665.1
Gene
GIT1
Gene Name
GIT ArfGAP 1
There are no transcripts associated with this gene.

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