Product Details

SNP ID
rs141595425
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30751154 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTGTTCATCGAGCTACTGGCCA[C/T]GAGTTTGCGGTGAAGATTATGGAAG
Phenotype
MIM: 172471
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC189 PubMed Links

Gene Details

Gene
CCDC189
Gene Name
coiled-coil domain containing 189
There are no transcripts associated with this gene.

Gene
PHKG2
Gene Name
phosphorylase kinase catalytic subunit gamma 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000294.2 354 Silent Mutation CAC,CAT H48H NP_000285.1
NM_001172432.1 354 Silent Mutation CAC,CAT H48H NP_001165903.1
Gene
TMEM265
Gene Name
transmembrane protein 265
There are no transcripts associated with this gene.

View Full Product Details