Product Details

SNP ID

rs200991611

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:160291379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGGCCCGAGTTCTAGTAGGCGCC[A/G]AGCAAAGGTGGCAGCTGTCTTGAAG

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	3797	Missense Mutation	CGG,TGG	R1135W	NP_001091868.1
NM_004371.3	3797	Missense Mutation	CGG,TGG	R1126W	NP_004362.2

Gene

PEX19

Gene Name

peroxisomal biogenesis factor 19

There are no transcripts associated with this gene.

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