Product Details

SNP ID

rs200818895

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38688946 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGTGCCGATTACCTGAGCTCGCT[C/G]TCGCCTCCAATCCACTCGGGCATCT

Phenotype

MIM: 615323 MIM: 607046

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

JOSD1 PubMed Links

Gene Details

Gene

JOSD1

Gene Name

Josephin domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014876.5	1196	Missense Mutation	GAC,GAG	D166E	NP_055691.1
XM_005261876.2	1196	Missense Mutation	GAC,GAG	D166E	XP_005261933.1
XM_005261877.2	1196	Missense Mutation	GAC,GAG	D166E	XP_005261934.1
XM_005261878.2	1196	Missense Mutation	GAC,GAG	D166E	XP_005261935.1
XM_005261879.2	1196	Missense Mutation	GAC,GAG	D166E	XP_005261936.1

Gene

TOMM22

Gene Name

translocase of outer mitochondrial membrane 22

There are no transcripts associated with this gene.

View Full Product Details