Product Details

SNP ID
rs199905986
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:108564312 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATTATGAAAATCCTAGAAACGTG[G/T]GGTCCCTTGACAAGACATCTAAAAA
Phenotype
MIM: 611911 MIM: 611684
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ISCU PubMed Links

Gene Details

Gene
ISCU
Gene Name
iron-sulfur cluster assembly enzyme
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301140.1 1308 Missense Mutation GGG,TGG G50W NP_001288069.1
NM_001301141.1 1308 Missense Mutation GGG,TGG G50W NP_001288070.1
NM_001320042.1 1308 Missense Mutation GGG,TGG G50W NP_001306971.1
NM_014301.4 1308 Missense Mutation GGG,TGG G25W NP_055116.1
NM_213595.3 1308 Missense Mutation GGG,TGG G50W NP_998760.1
XM_011538100.2 1308 Missense Mutation GGG,TGG G25W XP_011536402.1
XM_011538101.2 1308 Missense Mutation GGG,TGG G50W XP_011536403.1
Gene
SART3
Gene Name
squamous cell carcinoma antigen recognized by T-cells 3
There are no transcripts associated with this gene.

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