Product Details

SNP ID

rs138919469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184186563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGTGGATGACCTGGTGGAAGCT[C/G]TAGGGGAACTATTGCAAGAGGTGTC

Phenotype

MIM: 601024

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ABCF3 PubMed Links

Gene Details

Gene

ABCF3

Gene Name

ATP binding cassette subfamily F member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018358.2	234	Missense Mutation	CTA,GTA	L44V	NP_060828.2
XM_011512959.2	234	UTR 5			XP_011511261.1

Gene

AP2M1

Gene Name

adaptor related protein complex 2 mu 1 subunit

There are no transcripts associated with this gene.

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