Product Details

SNP ID

rs148967593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57575578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTACGAAGAGACTGAAGCCCTAG[C/T]TTATCTGTCATTTCACTGATGGCCA

Phenotype

MIM: 601177 MIM: 616519

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARF4 PubMed Links

Gene Details

Gene

ARF4

Gene Name

ADP ribosylation factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001660.3	774	Silent Mutation	AAA,AAG	K142K	NP_001651.1

Gene

PDE12

Gene Name

phosphodiesterase 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322176.1	774	Intron			NP_001309105.1
NM_001322177.1	774	Intron			NP_001309106.1
NM_177966.6	774	Intron			NP_808881.3

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