Product Details

SNP ID
rs202204638
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219169340 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGTGTCTGGATGGCCCGGGGTAG[C/G]TTCTGGCTGGTCAGCACCAGAGCAG
Phenotype
MIM: 611290
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CNPPD1 PubMed Links

Gene Details

Gene
CNPPD1
Gene Name
cyclin Pas1/PHO80 domain containing 1
There are no transcripts associated with this gene.

Gene
FAM134A
Gene Name
family with sequence similarity 134 member A
There are no transcripts associated with this gene.

Gene
NHEJ1
Gene Name
non-homologous end joining factor 1
There are no transcripts associated with this gene.

Gene
SLC23A3
Gene Name
solute carrier family 23 member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144889.1 498 Missense Mutation AAC,AAG N129K NP_001138361.1
NM_001144890.1 498 Missense Mutation AAC,AAG N129K NP_001138362.1
NM_144712.4 498 Missense Mutation AAC,AAG N129K NP_653313.3

View Full Product Details