Product Details

SNP ID

rs145520567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46858411 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATAGTTGATGCAGCCATTGGAGT[C/T]CTCTTGCCCAGCCATCAACTTCTCC

Phenotype

MIM: 160790

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYL3 PubMed Links

Gene Details

Gene

MYL3

Gene Name

myosin light chain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000258.2	625	Missense Mutation	AAC,GAC	N178D	NP_000249.1

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