Product Details

SNP ID
rs200298634
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:23429924 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTTGAGCCATCTCCTTCAGTGA[C/T]GCCAACCTGCAGAAAGAAGGATGAA
Phenotype
MIM: 616594 MIM: 604128
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASAP3 PubMed Links

Gene Details

Gene
ASAP3
Gene Name
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143778.1 2768 Missense Mutation ATC,GTC I873V NP_001137250.1
NM_017707.3 2768 Missense Mutation ATC,GTC I882V NP_060177.2
XM_011541755.1 2768 Missense Mutation ATC,GTC I905V XP_011540057.1
XM_017001685.1 2768 Missense Mutation ATC,GTC I903V XP_016857174.1
XM_017001686.1 2768 Missense Mutation ATC,GTC I884V XP_016857175.1
XM_017001687.1 2768 Missense Mutation ATC,GTC I862V XP_016857176.1
XM_017001688.1 2768 Missense Mutation ATC,GTC I772V XP_016857177.1
XM_017001689.1 2768 Missense Mutation ATC,GTC I753V XP_016857178.1
Gene
TCEA3
Gene Name
transcription elongation factor A3
There are no transcripts associated with this gene.

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