Product Details

SNP ID

rs143710089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:210293772 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCTTCTTGACCTGCCATCAGGGC[C/T]TCCACTTCTTCCTCTTTCATCTTTT

Phenotype

MIM: 160780

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYL1 PubMed Links

Gene Details

Gene

MYL1

Gene Name

myosin light chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_079420.2	446	Silent Mutation	GAA,GAG	E169E	NP_524144.1
NM_079422.2	446	Silent Mutation	GAA,GAG	E125E	NP_524146.1

View Full Product Details