Product Details

SNP ID
rs185030520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:103994377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATTTCTCCAATTGCTTGGTGATG[C/T]GCTGGTGCTTCCATTCTGTCATGTT
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 1746 Missense Mutation CAC,CGC H242R NP_001303896.1
NM_031302.4 1746 Missense Mutation CAC,CGC H242R NP_112592.1
XM_011538793.2 1746 Missense Mutation CAC,CGC H242R XP_011537095.1
XM_017019999.1 1746 Missense Mutation CAC,CGC H242R XP_016875488.1
Gene
TDG
Gene Name
thymine DNA glycosylase
There are no transcripts associated with this gene.

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