Product Details

SNP ID

rs4600550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:45814900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATACACCCCCACAGCTTTGACCCA[A/G]CTTCTGCTAATGCAAAGGTCCCTGA

Phenotype

MIM: 615068

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPG5 PubMed Links

Gene Details

Gene

EPG5

Gene Name

ectopic P-granules autophagy protein 5 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020964.2		Intron			NP_066015.2

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