Product Details

SNP ID

rs199988970

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:10494604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCCTTCACTTTTCTCTCATGTT[C/T]GCGTAGACCCTTGACAGCTTCAACA

Phenotype

MIM: 160730

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYH1 PubMed Links

Gene Details

Gene

MYH1

Gene Name

myosin heavy chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005963.3	5803	Missense Mutation	AAA,GAA	K1846E	NP_005954.3
XM_017024675.1	5803	Missense Mutation	AAA,GAA	K1846E	XP_016880164.1

Gene

MYHAS

Gene Name

myosin heavy chain gene cluster antisense RNA

There are no transcripts associated with this gene.

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