Product Details

SNP ID
rs202205930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:46245095 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGACCTAGCCCCAGTTGCACTCA[C/T]GTCCGAGAACCGGGCTGGCTGGGGG
Phenotype
MIM: 170998
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CDPF1 PubMed Links

Gene Details

Gene
CDPF1
Gene Name
cysteine rich DPF motif domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207327.4 797 Silent Mutation ACA,ACG T123T NP_997210.3
XM_011529960.1 797 Missense Mutation ATG,GTG M125V XP_011528262.1
XM_011529962.2 797 Missense Mutation ATG,GTG M125V XP_011528264.1
XM_011529963.1 797 Intron XP_011528265.1
XM_011529964.1 797 Intron XP_011528266.1
XM_011529965.2 797 Silent Mutation ACA,ACG T123T XP_011528267.1
Gene
PPARA
Gene Name
peroxisome proliferator activated receptor alpha
There are no transcripts associated with this gene.

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