Product Details

SNP ID

rs201904067

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:10306488 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCAGTTTCTGGATCTGCTTCT[C/T]CCCGCCCTTCAGCGCCAGTTGTTCA

Phenotype

MIM: 603487

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYH13 PubMed Links

Gene Details

Gene

MYH13

Gene Name

myosin heavy chain 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003802.2	5527	Missense Mutation	AAG,GAG	K1813E	NP_003793.2

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