Product Details

SNP ID

rs141707871

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89835524 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAATACTTGATCCTCAGACAAA[C/G]TGGGACAGGTTGGGAACTTTGATGT

Phenotype

MIM: 602416

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AP3S2 PubMed Links

Gene Details

Gene

AP3S2

Gene Name

adaptor related protein complex 3 sigma 2 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005829.4	1009	Missense Mutation	CAC,CAG	H191Q	NP_005820.1

Gene

C15orf38-AP3S2

Gene Name

C15orf38-AP3S2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199058.1	1009	Missense Mutation	CAC,CAG	H392Q	NP_001185987.1

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