Product Details

SNP ID
rs143060039
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30381807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAAAGCCAGGTGTGTCCACAAG[C/G]GTCAGCTTCACTTTCACACCCCCTT
Phenotype
MIM: 612897
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
LOC107983970 PubMed Links

Gene Details

Gene
LOC107983970
Gene Name
uncharacterized LOC107983970
There are no transcripts associated with this gene.

Gene
MYLPF
Gene Name
myosin light chain, phosphorylatable, fast skeletal muscle
There are no transcripts associated with this gene.

Gene
SEPT1
Gene Name
septin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052838.4 445 Silent Mutation ACC,ACG T133T NP_443070.5
XM_017022991.1 445 Silent Mutation ACC,ACG T133T XP_016878480.1
Gene
ZNF48
Gene Name
zinc finger protein 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001214906.1 445 Intron NP_001201835.1
NM_001214907.1 445 Intron NP_001201836.1
NM_001214909.1 445 Intron NP_001201838.1
NM_001324494.1 445 Intron NP_001311423.1
NM_152652.2 445 Intron NP_689865.2

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