Product Details

SNP ID

rs79747866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:10629728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTGGTGAGATGAGCATTGGCTT[G/T]TTCATCCTAAAACCAAAGAGCCCAG

Phenotype

MIM: 160720

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MYH3 PubMed Links

Gene Details

Gene

MYH3

Gene Name

myosin, heavy chain 3, skeletal muscle, embryonic

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002470.3	7120	Missense Mutation	AAA,CAA	K1889Q	NP_002461.2
XM_011523870.2	7120	Missense Mutation	AAA,CAA	K1889Q	XP_011522172.1
XM_011523871.2	7120	Missense Mutation	AAA,CAA	K1889Q	XP_011522173.1

Gene

MYHAS

Gene Name

myosin heavy chain gene cluster antisense RNA

There are no transcripts associated with this gene.

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