Product Details

SNP ID

rs139143750

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43276526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTCCTTGACCTCGTTGCTGCTGA[C/T]GAGAACCTGGAGCTGGCGGGGTCCA

Phenotype

MIM: 603805 MIM: 606776

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TGM5 PubMed Links

Gene Details

Gene

TGM5

Gene Name

transglutaminase 5

There are no transcripts associated with this gene.

Gene

TGM7

Gene Name

transglutaminase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052955.2	2065	Missense Mutation	ATC,GTC	I688V	NP_443187.1
XM_017021903.1	2065	Missense Mutation	ATC,GTC	I689V	XP_016877392.1

View Full Product Details