Product Details

SNP ID: rs147334255
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:27750995 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GACCGCCAGGTGGGCACGGAGGCTC[A/G]AGCCTTGGCGTCACCCACGTCGTCT
Phenotype: MIM: 156100
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: MN1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002430.2	4838	Nonsense Mutation	CGA,TGA	R1295*	NP_002421.3