Product Details

SNP ID
rs145175030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:42300059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTCACCTGCTCTGCTGTGTGTC[C/T]GTGGTTGTTGGTGCCCACCCAGACC
Phenotype
MIM: 612082 MIM: 603074
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CIC PubMed Links

Gene Details

Gene
CIC
Gene Name
capicua transcriptional repressor
There are no transcripts associated with this gene.

Gene
PAFAH1B3
Gene Name
platelet activating factor acetylhydrolase 1b catalytic subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145939.1 654 Missense Mutation AGA,GGA R107G NP_001139411.1
NM_001145940.1 654 Missense Mutation AGA,GGA R107G NP_001139412.1
NM_002573.3 654 Missense Mutation AGA,GGA R107G NP_002564.1
XM_017026846.1 654 Missense Mutation AGA,GGA R107G XP_016882335.1
XM_017026847.1 654 Missense Mutation AGA,GGA R107G XP_016882336.1
XM_017026848.1 654 Missense Mutation AGA,GGA R107G XP_016882337.1
Gene
PRR19
Gene Name
proline rich 19
There are no transcripts associated with this gene.

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