Product Details

SNP ID: rs74315332
Assay Type: Functionally tested
NCBI dbSNP Submissions: 3
Location: Chr.1:171636000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGCAAAGAGCTTCTTCTCCAGGGG[T/G]TTGTAGTCAATCATGCTGCTGTACT
Phenotype: MIM: 601652
Polymorphism: T/G, Transversion substitution
Allele Nomenclature
Literature Links: MYOC PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000261.1	1462	Missense Mutation	AAA,AAC	K480N	NP_000252.1