Product Details

SNP ID

rs139900511

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:10445043 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCAGCTGCTCAGCCTCATCCAGA[C/T]GGAGCTGCAGATCCTTCACGGTCTG

Phenotype

MIM: 160742

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MYH4 PubMed Links

Additional Information

For this assay, SNP(s) [rs2277649] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MYH4

Gene Name

myosin heavy chain 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017533.2	5654	Missense Mutation	CAT,CGT	H1800R	NP_060003.2
XM_017024676.1	5654	Missense Mutation	CAT,CGT	H1800R	XP_016880165.1

Gene

MYHAS

Gene Name

myosin heavy chain gene cluster antisense RNA

There are no transcripts associated with this gene.

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