Product Details

SNP ID

rs1035877

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:115842427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCCGATCGGGCAGCCGCAGCCCA[G/T]CCGCGCCGCGGAGCCCTGCGCCCAG

Phenotype

MIM: 601507 MIM: 609608

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

AP3S1 PubMed Links

Additional Information

For this assay, SNP(s) [rs371968650,rs542407147] 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

AP3S1

Gene Name

adaptor related protein complex 3 sigma 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002924.2		Intron			NP_001002924.2
NM_001284.3		Intron			NP_001275.1
NM_001318090.1		Intron			NP_001305019.1
NM_001318091.1		Intron			NP_001305020.1
NM_001318093.1		Intron			NP_001305022.1
NM_001318094.1		Intron			NP_001305023.1
XM_011543136.2		Intron			XP_011541438.2
XM_017009024.1		Intron			XP_016864513.1
XM_017009025.1		Intron			XP_016864514.1

Gene

ATG12

Gene Name

autophagy related 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277783.1		Intron			NP_001264712.1
NM_004707.3		Intron			NP_004698.3

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