Product Details

SNP ID
rs144930894
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30751185 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCGGTGAAGATTATGGAAGTGACA[A/G]CTGAGCGGCTGAGTCCTGAGCAGCT
Phenotype
MIM: 172471
Polymorphism
A/G, 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_000294.2 385 Missense Mutation ACT,GCT T59A NP_000285.1
NM_001172432.1 385 Missense Mutation ACT,GCT T59A NP_001165903.1
Gene
TMEM265
Gene Name
transmembrane protein 265
There are no transcripts associated with this gene.

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