Product Details

SNP ID

rs141651630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:115842102 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCGGCTCTCCAAGTTCTACCAGC[C/G]CTACGTGAGTATCCAGCCGCCGCTG

Phenotype

MIM: 601507 MIM: 609608

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AP3S1 PubMed Links

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	497	UTR 5			NP_001002924.2
NM_001284.3	497	Missense Mutation	CCC,CGC	P22R	NP_001275.1
NM_001318090.1	497	Missense Mutation	CCC,CGC	P22R	NP_001305019.1
NM_001318091.1	497	Missense Mutation	CCC,CGC	P22R	NP_001305020.1
NM_001318093.1	497	Missense Mutation	CCC,CGC	P22R	NP_001305022.1
NM_001318094.1	497	Missense Mutation	CCC,CGC	P22R	NP_001305023.1
XM_011543136.2	497	Missense Mutation	CCC,CGC	P122R	XP_011541438.2
XM_017009024.1	497	Missense Mutation	CCC,CGC	P122R	XP_016864513.1
XM_017009025.1	497	Missense Mutation	CCC,CGC	P122R	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	497	Intron			NP_001264712.1
NM_004707.3	497	Intron			NP_004698.3

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