Product Details

SNP ID
rs111789052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:113388040 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGGACGGAGTACGCCATCAAGTG[C/G]GCCCCCTGCCTTCCACCCGACGCCG
Phenotype
MIM: 608774 MIM: 610732
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ANKK1 PubMed Links

Gene Details

Gene
ANKK1
Gene Name
ankyrin repeat and kinase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178510.1 2027 Missense Mutation TGC,TGG C52W NP_848605.1
XM_011542736.2 2027 Missense Mutation TGC,TGG C52W XP_011541038.1
XM_011542737.2 2027 Missense Mutation TGC,TGG C52W XP_011541039.1
XM_011542738.2 2027 Intron XP_011541040.1
XM_017017475.1 2027 Missense Mutation TGC,TGG C52W XP_016872964.1
Gene
TTC12
Gene Name
tetratricopeptide repeat domain 12
There are no transcripts associated with this gene.

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