Product Details

SNP ID
rs183188841
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67290103 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGACATTGAACAGGAGGACCCCC[A/G]CGGGCGGACCCCACTGGAGCTGGCC
Phenotype
MIM: 615126 MIM: 109635
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ANKRD13D PubMed Links

Gene Details

Gene
ANKRD13D
Gene Name
ankyrin repeat domain 13D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207354.2 286 Missense Mutation CAC,CGC H39R NP_997237.2
XM_011544985.1 286 Missense Mutation CAC,CGC H39R XP_011543287.1
XM_011544986.1 286 UTR 5 XP_011543288.1
XM_011544987.2 286 UTR 5 XP_011543289.1
XM_011544988.2 286 Intron XP_011543290.1
Gene
GRK2
Gene Name
G protein-coupled receptor kinase 2
There are no transcripts associated with this gene.

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