Product Details

SNP ID

rs34997807

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:160292040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAATCTCTTGTTTATTGTCCACA[A/C]CAAGAAGTGGCACACTGAGAAGGAT

Phenotype

MIM: 601924 MIM: 600279

Polymorphism

A/C, Transversion 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	3540	Missense Mutation	GGT,GTT	G1049V	NP_001091868.1
NM_004371.3	3540	Missense Mutation	GGT,GTT	G1040V	NP_004362.2

Gene

PEX19

Gene Name

peroxisomal biogenesis factor 19

There are no transcripts associated with this gene.

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