Product Details

SNP ID

rs151155650

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43279130 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGACACTACCTCAATAGACAAG[A/T]GGGGAGGCTCCAGACAGATATCTTT

Phenotype

MIM: 606776

Polymorphism

A/T, Transversion 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	1829	Missense Mutation	CAC,CTC	H609L	NP_443187.1
XM_017021903.1	1829	Missense Mutation	CAC,CTC	H610L	XP_016877392.1

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