Product Details

SNP ID

rs149689172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:48925085 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCGTGTCTCCAAAAGCAGCGGG[C/G]TCGGCACATGGTTCTGGGGGCTCCA

Phenotype

MIM: 103190 MIM: 611088 MIM: 610571

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARF3 PubMed Links

Gene Details

Gene

ARF3

Gene Name

ADP ribosylation factor 3

There are no transcripts associated with this gene.

Gene

CCDC65

Gene Name

coiled-coil domain containing 65

There are no transcripts associated with this gene.

Gene

FKBP11

Gene Name

FK506 binding protein 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143781.1	275	Intron			NP_001137253.1
NM_001143782.1	275	Missense Mutation	GAC,GAG	D52E	NP_001137254.1
NM_016594.2	275	Missense Mutation	GAC,GAG	D52E	NP_057678.1

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