Product Details

SNP ID

rs2663531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50912552 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTTTAAAGTTTGTTCTACATAAT[C/T]TGATTTTTCAAACAATATTCAGCAA

Phenotype

MIM: 607244

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP4E1 PubMed Links

Gene Details

Gene

AP4E1

Gene Name

adaptor related protein complex 4 epsilon 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252127.1		Intron			NP_001239056.1
NM_007347.4		Intron			NP_031373.2
XM_005254264.3		Intron			XP_005254321.1
XM_006720447.3		Intron			XP_006720510.1
XM_017022042.1		Intron			XP_016877531.1

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