Product Details

SNP ID
rs142945237
Assay Type
Functionally Tested
NCBI dbSNP Submissions
13
Location
Chr.1:23431121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCGCCGATAGGAGCGAGTGCTCT[C/T]GGAGCTGGAAGGCAGGGAAAGGCCA
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 2675 Missense Mutation NP_001137250.1
NM_017707.3 2675 Missense Mutation NP_060177.2
XM_011541755.1 2675 Missense Mutation XP_011540057.1
XM_017001685.1 2675 Nonsense Mutation XP_016857174.1
XM_017001686.1 2675 Nonsense Mutation XP_016857175.1
XM_017001687.1 2675 Nonsense Mutation XP_016857176.1
XM_017001688.1 2675 Nonsense Mutation XP_016857177.1
XM_017001689.1 2675 Nonsense Mutation XP_016857178.1
Gene
TCEA3
Gene Name
transcription elongation factor A3
There are no transcripts associated with this gene.

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