Product Details

SNP ID
rs145777113
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:38130284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTTCAGCTTGTCGCTCTCGAAGT[C/T]CACCACCAGCTTGTGGAGGCCCATG
Phenotype
MIM: 190196
Polymorphism
C/T, 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 2213 Missense Mutation AAC,GAC N667D NP_001310245.1
NM_001323317.1 2213 Missense Mutation AAC,GAC N586D NP_001310246.1
NM_001323318.1 2213 Missense Mutation AAC,GAC N607D NP_001310247.1
NM_004613.3 2213 Missense Mutation AAC,GAC N667D NP_004604.2
NM_198951.2 2213 Intron NP_945189.1
XM_011529028.1 2213 Missense Mutation AAC,GAC N667D XP_011527330.1

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