Product Details

SNP ID

rs140070100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43279148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACAAGTGGGGAGGCTCCAGACAG[A/G]TATCTTTTAGGACCAGCATGGACCT

Phenotype

MIM: 606776

Polymorphism

A/G, 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	1811	Missense Mutation	ACC,ATC	T603I	NP_443187.1
XM_017021903.1	1811	Missense Mutation	ACC,ATC	T604I	XP_016877392.1

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