Product Details

SNP ID
rs149784534
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30763508 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGCACCTGGGACCCAGGAGGGG[C/T]CAACATGTGATGGGACTCCTCTCCC
Phenotype
MIM: 172471 MIM: 607700
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
There are no transcripts associated with this gene.

Gene
RNF40
Gene Name
ring finger protein 40
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207033.1 552 Missense Mutation CCA,TCA P131S NP_001193962.1
NM_001207034.1 552 Missense Mutation CCA,TCA P131S NP_001193963.1
NM_001286572.2 552 Missense Mutation CCA,TCA P131S NP_001273501.1
NM_014771.3 552 Missense Mutation CCA,TCA P131S NP_055586.1
XM_011545997.1 552 Missense Mutation CCA,TCA P131S XP_011544299.1

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