Product Details

SNP ID
rs200143494
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:38735555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGCACCGTGGCTAGGGTGAGCC[A/G]CTTGCAGGCTGGCTGGACACGGTAC
Phenotype
MIM: 611933 MIM: 600328 MIM: 600346
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CISD3 PubMed Links

Gene Details

Gene
CISD3
Gene Name
CDGSH iron sulfur domain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136498.1 1965 UTR 3 NP_001129970.1
Gene
MLLT6
Gene Name
MLLT6, PHD finger domain containing
There are no transcripts associated with this gene.

Gene
PCGF2
Gene Name
polycomb group ring finger 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007144.2 1965 Missense Mutation CGG,TGG R235W NP_009075.1
XM_005257640.2 1965 Missense Mutation CGG,TGG R235W XP_005257697.1
XM_005257641.4 1965 Missense Mutation CGG,TGG R235W XP_005257698.1
XM_005257642.3 1965 Missense Mutation CGG,TGG R235W XP_005257699.1
XM_017025016.1 1965 Missense Mutation CGG,TGG R235W XP_016880505.1

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