Product Details

SNP ID
rs146621816
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:38130245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGCGGGGCCAATGATGACATTCC[A/G]GAAGCCCTTCACAGCCTTCAGCTTG
Phenotype
MIM: 190196
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TGM2 PubMed Links

Gene Details

Gene
TGM2
Gene Name
transglutaminase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323316.1 2252 Missense Mutation CGG,TGG R680W NP_001310245.1
NM_001323317.1 2252 Missense Mutation CGG,TGG R599W NP_001310246.1
NM_001323318.1 2252 Missense Mutation CGG,TGG R620W NP_001310247.1
NM_004613.3 2252 Missense Mutation CGG,TGG R680W NP_004604.2
NM_198951.2 2252 Intron NP_945189.1
XM_011529028.1 2252 Missense Mutation CGG,TGG R680W XP_011527330.1

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