Product Details

SNP ID

rs143554475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17338397 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTTCACCGGTGAGGACTGCGTG[G/T]AGTTCCACGTGCATGGAGGCCCGGC

Phenotype

MIM: 610216 MIM: 608536

Polymorphism

G/T, Transversion 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	429	Missense Mutation	GAG,TAG	E112*	NP_001122327.1
NM_001195422.1	429	Missense Mutation	GAG,TAG	E134*	NP_001182351.1
NM_032620.3	429	Missense Mutation	GAG,TAG	E112*	NP_116009.2
NM_133644.3	429	Missense Mutation	GAG,TAG	E112*	NP_598399.2

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