Product Details

SNP ID

rs138794309

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:115832623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACCTCATAGAGAGTTCCAACTTC[C/T]TGGTCTGGGGAAGGAGCAAAGGACT

Phenotype

MIM: 601507 MIM: 609608

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP3S1 PubMed Links

Gene Details

Gene

AP3S1

Gene Name

adaptor related protein complex 3 sigma 1 subunit

There are no transcripts associated with this gene.

Gene

ATG12

Gene Name

autophagy related 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277783.1	504	Missense Mutation	AGA,GGA	R69G	NP_001264712.1
NM_004707.3	504	Silent Mutation	CAA,CAG	Q114Q	NP_004698.3

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