Product Details

SNP ID: rs201397350
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.21:32603208 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTGGTTTTTTCATTCTTCCCCACGT[A/T]GTCTGAAAGCTTCTTCGTTCTTCTC
Phenotype: MIM: 615494
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: C21orf59 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021254.2	984	Missense Mutation	AAC,TAC	N207Y	NP_067077.1