Product Details

SNP ID
rs200062838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:103989536 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATTCCAGTGGAGTAATTTAGCTT[C/T]CTGCAGAAAATGCTCCGAATATCTG
Phenotype
MIM: 601423
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GLT8D2 PubMed Links

Gene Details

Gene
GLT8D2
Gene Name
glycosyltransferase 8 domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316967.1 1943 Missense Mutation AAA,GAA K308E NP_001303896.1
NM_031302.4 1943 Missense Mutation AAA,GAA K308E NP_112592.1
XM_011538793.2 1943 Missense Mutation AAA,GAA K308E XP_011537095.1
XM_017019999.1 1943 Missense Mutation AAA,GAA K308E XP_016875488.1
Gene
TDG
Gene Name
thymine DNA glycosylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003211.4 1943 Intron NP_003202.3
XM_005269125.1 1943 Intron XP_005269182.1
XM_011538714.1 1943 Intron XP_011537016.1
XM_011538715.1 1943 Intron XP_011537017.1

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