Product Details

SNP ID

rs199863377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:10631630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTACGTCCGTGATGGCCTTCTTG[A/G]CCTTCTCCTCAGCGTTCCTTGCATC

Phenotype

MIM: 160720

Polymorphism

A/G, Transition 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	6722	Missense Mutation	GCC,GTC	A1756V	NP_002461.2
XM_011523870.2	6722	Missense Mutation	GCC,GTC	A1756V	XP_011522172.1
XM_011523871.2	6722	Missense Mutation	GCC,GTC	A1756V	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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