Product Details

SNP ID

rs141865220

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17338715 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACGGAGAGCTGGGCCACCTCTGC[C/T]GTGGCTGGGCCGAGACCCTCACCAA

Phenotype

MIM: 610216 MIM: 608536

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANO8 PubMed Links

Gene Details

Gene

ANO8

Gene Name

anoctamin 8

There are no transcripts associated with this gene.

Gene

GTPBP3

Gene Name

GTP binding protein 3 (mitochondrial)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128855.2	660	Missense Mutation	CGT,TGT	R189C	NP_001122327.1
NM_001195422.1	660	Missense Mutation	CGT,TGT	R211C	NP_001182351.1
NM_032620.3	660	Missense Mutation	CGT,TGT	R189C	NP_116009.2
NM_133644.3	660	Missense Mutation	CGT,TGT	R189C	NP_598399.2

View Full Product Details