Product Details

SNP ID
rs398122904
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24249489 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAATGAGCTGGCGGGGGCCTGGTC[A/G]CACAGGCACAAACGACTGGCGCAGT
Phenotype
MIM: 190195 MIM: 604319
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
TGM1 PubMed Links

Gene Details

Gene
TGM1
Gene Name
transglutaminase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000359.2 2402 Nonsense Mutation CGA,TGA R760* NP_000350.1
Gene
TINF2
Gene Name
TERF1 interacting nuclear factor 2
There are no transcripts associated with this gene.

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