Product Details

SNP ID

rs147117678

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48813247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACCCGTACCCCAGCTCTGCACC[C/G]CCCGTCACGAGCAGTTCAATGCCCG

Phenotype

MIM: 113530 MIM: 612832

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BCAT2 PubMed Links

Gene Details

Gene

BCAT2

Gene Name

branched chain amino acid transaminase 2

There are no transcripts associated with this gene.

Gene

HSD17B14

Gene Name

hydroxysteroid 17-beta dehydrogenase 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016246.2	1007	Silent Mutation	GGC,GGG	G247G	NP_057330.2
XM_005258969.3	1007	UTR 3			XP_005259026.1
XM_005258970.3	1007	UTR 3			XP_005259027.1

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