Product Details

SNP ID

rs200199139

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24268390 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCTGAATAGCTGCTCGTCTGTC[A/G]TGGAGTCCCGGCACCAGCCCTCCTG

Phenotype

MIM: 601905 MIM: 190195

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RABGGTA PubMed Links

Gene Details

Gene

RABGGTA

Gene Name

Rab geranylgeranyltransferase alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004581.5	1549	Missense Mutation	ACG,ATG	T346M	NP_004572.3
NM_182836.2	1549	Missense Mutation	ACG,ATG	T346M	NP_878256.1

Gene

TGM1

Gene Name

transglutaminase 1

There are no transcripts associated with this gene.

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