Product Details

SNP ID

rs200558852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:210291061 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCTCCATTCAGATAGACATGAT[A/G]TGCTTGACAAAAGCTGTAGGAGCAA

Phenotype

MIM: 160780

Polymorphism

A/G, 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	509	Silent Mutation	CAC,CAT	H190H	NP_524144.1
NM_079422.2	509	Silent Mutation	CAC,CAT	H146H	NP_524146.1

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