Product Details

SNP ID

rs78390484

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:160289206 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATTATTACTGGAAGGAAGATAT[A/G]TACTTTGGTGGGGTGCCTGCATGGG

Phenotype

MIM: 601924 MIM: 600279

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COPA PubMed Links

Gene Details

Gene

COPA

Gene Name

coatomer protein complex subunit alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098398.1	5047	UTR 3			NP_001091868.1
NM_004371.3	5047	UTR 3			NP_004362.2

Gene

PEX19

Gene Name

peroxisomal biogenesis factor 19

There are no transcripts associated with this gene.

View Full Product Details