Product Details

SNP ID
rs139508776
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30759389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGAGCTTGAAGTGGCGGAAGTAAG[C/T]GTTGACCACGTAGTCTTCCAAGGCC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014979.2 1271 Missense Mutation ACT,GCT T204A NP_001014979.2
NM_001195620.1 1271 Intron NP_001182549.1
XM_011545976.1 1271 Missense Mutation ACT,GCT T204A XP_011544278.1
XM_011545978.1 1271 Silent Mutation ACA,ACG T175T XP_011544280.1
XM_017023852.1 1271 Missense Mutation ACT,GCT T269A XP_016879341.1
XM_017023853.1 1271 Missense Mutation ACT,GCT T248A XP_016879342.1
XM_017023854.1 1271 Missense Mutation ACT,GCT T269A XP_016879343.1
XM_017023855.1 1271 Missense Mutation ACT,GCT T237A XP_016879344.1
XM_017023856.1 1271 Missense Mutation ACT,GCT T232A XP_016879345.1
XM_017023857.1 1271 Missense Mutation ACT,GCT T200A XP_016879346.1
XM_017023858.1 1271 Missense Mutation ACT,GCT T269A XP_016879347.1
XM_017023859.1 1271 Silent Mutation ACA,ACG T227T XP_016879348.1
XM_017023860.1 1271 Missense Mutation ACT,GCT T130A XP_016879349.1
XM_017023861.1 1271 Silent Mutation ACA,ACG T227T XP_016879350.1
XM_017023862.1 1271 Missense Mutation ACT,GCT T98A XP_016879351.1
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 1271 UTR 3 NP_000285.1
NM_001172432.1 1271 Intron NP_001165903.1
Gene
RNF40
Gene Name
ring finger protein 40
There are no transcripts associated with this gene.

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