Product Details

SNP ID

rs148788682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43276887 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTTGCTATCTGCCCATTGATGA[A/G]GCCGCTTCCTTCCAGCACCATCGTG

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	1951	Missense Mutation	CTC,TTC	L650F	NP_443187.1
XM_017021903.1	1951	Missense Mutation	CTC,TTC	L651F	XP_016877392.1

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