Product Details

SNP ID

rs138055873

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43276995 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCCCACCTCAGCCCTCTCAGACA[C/T]CTGTGTGGAGAGAAGTCAGCAATCC

Phenotype

MIM: 606776

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TGM7 PubMed Links

Gene Details

Gene

TGM7

Gene Name

transglutaminase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052955.2	1843	Missense Mutation	ATG,GTG	M614V	NP_443187.1
XM_017021903.1	1843	Missense Mutation	ATG,GTG	M615V	XP_016877392.1

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