Product Details

SNP ID
rs200215399
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:169649222 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATCTTGAACCTCTTGATGTTCT[G/T]TATCAGCTTTGCATTTTTTCTCCTT
Phenotype
MIM: 606093
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC173 PubMed Links

Gene Details

Gene
CCDC173
Gene Name
coiled-coil domain containing 173
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085447.1 1292 Missense Mutation AAA,ACA K426T NP_001078916.1
XM_011510589.1 1292 Missense Mutation AAA,ACA K402T XP_011508891.1
XM_011510590.1 1292 Missense Mutation AAA,ACA K345T XP_011508892.1
Gene
PPIG
Gene Name
peptidylprolyl isomerase G
There are no transcripts associated with this gene.

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