Product Details

SNP ID
rs12068754
Assay Type
Functionally tested
NCBI dbSNP Submissions
18
Location
Chr.1:10474995 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGTCCTCGGAGCAGGCAGAGCAGC[C/G]GAGCCAGGTAAGGGGAGTGGGACTG
Phenotype
MIM: 601882 MIM: 601791
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DFFA PubMed Links

Gene Details

Gene
DFFA
Gene Name
DNA fragmentation factor subunit alpha
There are no transcripts associated with this gene.

Gene
PEX14
Gene Name
peroxisomal biogenesis factor 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004565.2 50 Missense Mutation CCG,CGG P10R NP_004556.1
XM_005263470.4 50 Intron XP_005263527.1
XM_011541577.2 50 Intron XP_011539879.1
XM_011541578.2 50 Intron XP_011539880.1
XM_011541579.2 50 Intron XP_011539881.1
XM_011541580.1 50 Missense Mutation CCG,CGG P10R XP_011539882.1

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