Product Details

SNP ID
rs146002450
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:40076878 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAGGTCTCCTGTAAGGGAATGGT[G/T]TCCTTGGCTTGGCCACTTCTGTAAA
Phenotype
MIM: 600722
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CAP1 PubMed Links

Gene Details

Gene
CAP1
Gene Name
adenylate cyclase associated protein 1
There are no transcripts associated with this gene.

Gene
PPT1
Gene Name
palmitoyl-protein thioesterase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000310.3 994 Missense Mutation GAA,GAC E254D NP_000301.1
NM_001142604.1 994 Missense Mutation GAA,GAC E151D NP_001136076.1
XM_005271008.1 994 Intron XP_005271065.1

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