Product Details

SNP ID

rs139469785

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12337349 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACAACTGGCACCTACCTTCTCCA[C/T]GTCAGCTTTCTTTTCTGTGAGAAGA

Phenotype

MIM: 604581 MIM: 615103

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AFG3L2 PubMed Links

Gene Details

Gene

AFG3L2

Gene Name

AFG3 like matrix AAA peptidase subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006796.2	2361	Missense Mutation	ATG,GTG	M723V	NP_006787.2
XM_011525601.2	2361	Missense Mutation	ATG,GTG	M656V	XP_011523903.1

Gene

TUBB6

Gene Name

tubulin beta 6 class V

There are no transcripts associated with this gene.

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