Product Details

SNP ID
rs202098264
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:37141947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGAAAGCGACATCTGGAAAGTT[C/G]GAACAGTCAGCAGAAGAAACACCTA
Phenotype
MIM: 610856
Polymorphism
C/G, 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 1084 Silent Mutation TTC,TTG F294L NP_443723.2
XM_011519757.2 1084 Missense Mutation TTC,TTG F350L XP_011518059.1
XM_011519758.2 1084 Intron XP_011518060.1
XM_017016883.1 1084 Intron XP_016872372.1

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