Product Details

SNP ID

rs74125561

Assay Type

Functionally tested

NCBI dbSNP Submissions

27

Location

Chr.1:160279572 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTCACATGATCAGACACTGTTC[A/G]CCACTGGCACCTGGTGGGCCCGAAA

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

There are no transcripts associated with this gene.

Gene

PEX19

Gene Name

peroxisomal biogenesis factor 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193644.1	906	Missense Mutation	GCG,GTG	A276V	NP_001180573.1
NM_002857.3	906	Silent Mutation	GGC,GGT	G293G	NP_002848.1

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