Product Details

SNP ID
rs144200488
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:10680294 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCCTGAGAACTGTGTGCAGCCA[C/T]CTATGTACCCACTCATCACCCATGA
Phenotype
MIM: 160720 MIM: 603644
Polymorphism
C/T, 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 1759 Intron NP_002461.2
XM_011523870.2 1759 Intron XP_011522172.1
XM_011523871.2 1759 Intron XP_011522173.1
Gene
SCO1
Gene Name
SCO1 cytochrome c oxidase assembly protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004589.3 1759 Intron NP_004580.1
XM_005256751.3 1759 UTR 3 XP_005256808.1

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