Product Details

SNP ID: rs146867345
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.21:32604135 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCACAAACTACGTACCTGTGTTCCC[A/G]ACAAGTCTTCCTTATTTTCAAACTC
Phenotype: MIM: 615494
Polymorphism: A/G, Transition 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	889	Missense Mutation	TCG,TTG	S175L	NP_067077.1