Product Details

SNP ID

rs199628554

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:55369827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCAGGTCGGTTTCTTCATCGCTG[A/C]CGCGCTCATCTCCGCTCTCATCTGA

Phenotype

MIM: 613515

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATG14 PubMed Links

Gene Details

Gene

ATG14

Gene Name

autophagy related 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014924.4	1011	Missense Mutation	GGC,GTC	G424V	NP_055739.2
XM_011536563.2	1011	Missense Mutation	GGC,GTC	G311V	XP_011534865.1

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