Product Details

SNP ID
rs201528705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219172995 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTATGCAGGGCTCCAGGAGGCAA[C/T]GGGAGGTCAGTCCAAGGTCAGGCGG
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CNPPD1 PubMed Links

Gene Details

Gene
CNPPD1
Gene Name
cyclin Pas1/PHO80 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321389.1 1252 Missense Mutation CAT,CGT H275R NP_001308318.1
NM_001321390.1 1252 Missense Mutation CAT,CGT H275R NP_001308319.1
NM_001321391.1 1252 Missense Mutation CAT,CGT H275R NP_001308320.1
NM_015680.5 1252 Missense Mutation CAT,CGT H275R NP_056495.3
Gene
FAM134A
Gene Name
family with sequence similarity 134 member A
There are no transcripts associated with this gene.

Gene
SLC23A3
Gene Name
solute carrier family 23 member 3
There are no transcripts associated with this gene.

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