Product Details

SNP ID
rs139912303
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18257524 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCGTCCACAGGTATGACAGGTGC[A/G]AGGGCTGGAGCCCACTAGCATCACC
Phenotype
MIM: 600128
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIAA1683 PubMed Links

Gene Details

Gene
KIAA1683
Gene Name
KIAA1683
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145304.1 3976 Missense Mutation CGC,TGC R1254C NP_001138776.1
NM_001145305.1 3976 Missense Mutation CGC,TGC R1021C NP_001138777.1
NM_025249.3 3976 Missense Mutation CGC,TGC R1067C NP_079525.1
XM_005260084.1 3976 Missense Mutation CGC,TGC R1254C XP_005260141.1
XM_011528324.1 3976 Missense Mutation CGC,TGC R1208C XP_011526626.1
Gene
LOC729966
Gene Name
uncharacterized LOC729966
There are no transcripts associated with this gene.

Gene
PDE4C
Gene Name
phosphodiesterase 4C
There are no transcripts associated with this gene.

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