Product Details

SNP ID

rs144454643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17325219 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGGCCTTGGCAGAGGCCTTCTC[A/G]GAGGAGGTGGCAGGGTCCAGCCCAG

Phenotype

MIM: 610216 MIM: 608536

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANO8 PubMed Links

Gene Details

Gene

ANO8

Gene Name

anoctamin 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020959.2	2988	Silent Mutation	TCC,TCT	S943S	NP_066010.1
XM_017027048.1	2988	Silent Mutation	TCC,TCT	S943S	XP_016882537.1

Gene

DDA1

Gene Name

DET1 and DDB1 associated 1

There are no transcripts associated with this gene.

Gene

GTPBP3

Gene Name

GTP binding protein 3 (mitochondrial)

There are no transcripts associated with this gene.

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