Product Details

SNP ID

rs190048553

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:112534243 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATCGTTAACAGCCATTTTGCCA[A/C]TAATCTTACATACAGGGAAGGATAC

Phenotype

MIM: 609606

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATG3 PubMed Links

Gene Details

Gene

ATG3

Gene Name

autophagy related 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278712.1	1324	Missense Mutation	GTG,TTG	V297L	NP_001265641.1
NM_022488.4	1324	Intron			NP_071933.2
XM_011513074.1	1324	Intron			XP_011511376.1

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