Product Details

SNP ID: rs190789123
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.13:40758961 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGATTCACTCACCTAATTTTAGGTC[A/G]CTTTGCATCTCTCTGTGCCCTTGAC
Phenotype: MIM: 611992
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: MRPS31 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005830.3	661	Nonsense Mutation	CGA,TGA	R196*	NP_005821.2