Product Details

SNP ID

rs76799391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:115204654 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATACCTTGTTGTTGAGTTTATGA[A/C]TGGCTACACTGTTTCTGGATGGCAA

Phenotype

MIM: 602031

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PGGT1B PubMed Links

Gene Details

Gene

PGGT1B

Gene Name

protein geranylgeranyltransferase type I subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005023.3	1235	Intron			NP_005014.2
XM_005272020.3	1235	UTR 3			XP_005272077.2
XM_011543490.2	1235	Missense Mutation	AGT,ATT	S401I	XP_011541792.1
XM_011543492.2	1235	Missense Mutation	AGT,ATT	S278I	XP_011541794.1

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