Product Details

SNP ID
rs143085344
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:38685628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACAAGGAGACATATATGGAGTT[G/T]TCCATTTTTAATATTTGGTTAAACA
Phenotype
MIM: 615323 MIM: 607046
Polymorphism
G/T, 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 3581 UTR 3 NP_055691.1
XM_005261876.2 3581 UTR 3 XP_005261933.1
XM_005261877.2 3581 UTR 3 XP_005261934.1
XM_005261878.2 3581 UTR 3 XP_005261935.1
XM_005261879.2 3581 UTR 3 XP_005261936.1
Gene
TOMM22
Gene Name
translocase of outer mitochondrial membrane 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020243.4 3581 Intron NP_064628.1

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