Product Details

SNP ID
rs116643497
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30378604 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGTCGGGGGGAAGCGAGGTGCGT[C/G]CTCACCTCTTCGTCTTTCTCGCGGA
Phenotype
MIM: 612897 MIM: 613620
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324458.1 1190 Intron NP_001311387.1
NM_001324459.1 1190 Intron NP_001311388.1
NM_013292.4 1190 Intron NP_037424.2
Gene
SEPT1
Gene Name
septin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052838.4 1190 Intron NP_443070.5
XM_017022991.1 1190 Missense Mutation AGC,AGG S388R XP_016878480.1
Gene
TBC1D10B
Gene Name
TBC1 domain family member 10B
There are no transcripts associated with this gene.

Gene
ZNF48
Gene Name
zinc finger protein 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001214906.1 1190 Intron NP_001201835.1
NM_001214907.1 1190 Intron NP_001201836.1
NM_001214909.1 1190 Intron NP_001201838.1
NM_001324494.1 1190 Intron NP_001311423.1
NM_152652.2 1190 Intron NP_689865.2

View Full Product Details