Product Details

SNP ID
rs139341013
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18257307 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGTGGCTTGAACTATCTTCGCT[A/G]CCATTTGCTGCTGCCTCATCTGCTG
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 4193 Missense Mutation GCA,GTA A1326V NP_001138776.1
NM_001145305.1 4193 Missense Mutation GCA,GTA A1093V NP_001138777.1
NM_025249.3 4193 Missense Mutation GCA,GTA A1139V NP_079525.1
XM_005260084.1 4193 Missense Mutation GCA,GTA A1326V XP_005260141.1
XM_011528324.1 4193 Missense Mutation GCA,GTA A1280V 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.

View Full Product Details