Product Details

SNP ID

rs200609148

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:44809236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAAGATGCAGTTTATGAAGTAC[A/G]TGGTTTACCCGCAGACCTTCGCGCT

Phenotype

MIM: 611991

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BRCAT54 PubMed Links

Gene Details

Gene

BRCAT54

Gene Name

breast cancer-associated transcript 54

There are no transcripts associated with this gene.

Gene

MRPS30

Gene Name

mitochondrial ribosomal protein S30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016640.3	312	Missense Mutation	ATG,GTG	M92V	NP_057724.2

View Full Product Details