Product Details

SNP ID
rs138719192
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:29607769 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACATCGAGCAGCTGGATCCCCGC[A/G]GCCGGACTCCCCTGCACCTGGCCAC
Phenotype
MIM: 615124
Polymorphism
A/G, 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_152345.4 255 Missense Mutation AGC,GGC S48G NP_689558.4
XM_005257920.4 255 Missense Mutation AGC,GGC S48G XP_005257977.1
XM_011524319.2 255 Missense Mutation AGC,GGC S40G XP_011522621.1
XM_011524320.2 255 Missense Mutation AGC,GGC S48G XP_011522622.1
XM_011524321.2 255 Missense Mutation AGC,GGC S48G XP_011522623.1
XM_017024174.1 255 UTR 5 XP_016879663.1
XM_017024175.1 255 UTR 5 XP_016879664.1
XM_017024176.1 255 UTR 5 XP_016879665.1
Gene
CORO6
Gene Name
coronin 6
There are no transcripts associated with this gene.

View Full Product Details