Product Details

SNP ID

rs386833668

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:40074111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATAAAACCATTCTTCAGACAACT[A/G]AAGATGGTCCCCTTCTGTAGCCAGA

Phenotype

MIM: 600722

Polymorphism

A/G, Transition 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	1103	Nonsense Mutation	CAG,TAG	Q291*	NP_000301.1
NM_001142604.1	1103	Nonsense Mutation	CAG,TAG	Q188*	NP_001136076.1
XM_005271008.1	1103	Nonsense Mutation	CAG,TAG	Q267*	XP_005271065.1

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