Product Details

SNP ID
rs143922938
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.18:45803891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGACATTCACAATATCCAGAGTAC[A/C]ATCCAAAATTTCTTGACATATTGAG
Phenotype
MIM: 615068
Polymorphism
A/C, Transversion 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
XM_011526122.1 Intron XP_011524424.1
XM_017025889.1 Intron XP_016881378.1
XM_017025890.1 Intron XP_016881379.1
XM_017025891.1 Intron XP_016881380.1
XM_017025892.1 Intron XP_016881381.1
XM_017025893.1 Intron XP_016881382.1

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