Product Details

SNP ID
rs199839843
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:16130728 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGTTCTTCGTGGAGCCTCATCTC[A/G]TCTTACAGGAGCAGACTAGGTAAAG
Phenotype
MIM: 610082
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MYLIP PubMed Links

Gene Details

Gene
MYLIP
Gene Name
myosin regulatory light chain interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013262.3 496 Missense Mutation ATC,GTC I87V NP_037394.2
XM_005249032.2 496 Missense Mutation ATC,GTC I87V XP_005249089.1
XM_005249033.2 496 Intron XP_005249090.1
XM_017010789.1 496 Missense Mutation ATC,GTC I87V XP_016866278.1

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