Product Details

SNP ID

rs1053920

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:10392569 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTAGGTGAGTTCTTTTACTCGTCG[C/G]TCATGTTTCCGTAAACCTTTAACAG

Phenotype

MIM: 160741

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MYH8 PubMed Links

Gene Details

Gene

MYH8

Gene Name

myosin heavy chain 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002472.2	5636	Missense Mutation	GAC,GAG	D1847E	NP_002463.2

Gene

MYHAS

Gene Name

myosin heavy chain gene cluster antisense RNA

There are no transcripts associated with this gene.

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