Product Details

SNP ID
rs116939015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:37130364 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGCTGTCCCATGGTGCAGTCATC[G/T]AAGTGCACAACAAGGTAGACACTAA
Phenotype
MIM: 610856
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ANKRD30A PubMed Links

Gene Details

Gene
ANKRD30A
Gene Name
ankyrin repeat domain 30A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052997.2 530 Missense Mutation GAA,TAA E110* NP_443723.2
XM_011519757.2 530 Missense Mutation GAA,TAA E166* XP_011518059.1
XM_011519758.2 530 Intron XP_011518060.1
XM_017016883.1 530 Intron XP_016872372.1

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