Product Details

SNP ID
rs200399327
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:94439903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGGTAAGGCATGAGCACCCTAGG[C/T]TTCTTCTGTGTATCTCTTGCTGCTT
Phenotype
MIM: 191275
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DCT PubMed Links

Gene Details

Gene
DCT
Gene Name
dopachrome tautomerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001129889.2 1982 Missense Mutation ACC,GCC T552A NP_001123361.1
NM_001322182.1 1982 Missense Mutation ACC,GCC T208A NP_001309111.1
NM_001322183.1 1982 Missense Mutation ACC,GCC T208A NP_001309112.1
NM_001322184.1 1982 Missense Mutation ACC,GCC T208A NP_001309113.1
NM_001322185.1 1982 Missense Mutation ACC,GCC T208A NP_001309114.1
NM_001322186.1 1982 Missense Mutation ACC,GCC T456A NP_001309115.1
NM_001922.4 1982 Missense Mutation ACC,GCC T519A NP_001913.2
XM_011521049.1 1982 Missense Mutation ACC,GCC T456A XP_011519351.1
XM_017020401.1 1982 Missense Mutation ACC,GCC T562A XP_016875890.1

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