Product Details

SNP ID

rs12104154

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2097833 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACCAGGTGAGCCTGGGCCCCAGTGC[C/T]GAGGGACAGGCCCTGAGGCTTTGGA

Phenotype

MIM: 607246

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

AP3D1 PubMed Links

Additional Information

For this assay, SNP(s) [rs112353711] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

AP3D1

Gene Name

adaptor related protein complex 3 delta 1 subunit

There are no transcripts associated with this gene.

Gene

IZUMO4

Gene Name

IZUMO family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031735.2		Intron			NP_001026905.2
NM_001039846.1		Intron			NP_001034935.1
XM_005259480.3		Intron			XP_005259537.2

Gene

MOB3A

Gene Name

MOB kinase activator 3A

There are no transcripts associated with this gene.

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