Product Details

SNP ID
rs200640464
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:160344760 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACTCAGTGGAGAGGAAGATATAT[A/G]TCCCCTTAAATAAAACAGCTCCCTG
Phenotype
MIM: 601924 MIM: 605254
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
NCSTN
Gene Name
nicastrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001290184.1 465 Missense Mutation ATC,GTC I22V NP_001277113.1
NM_001290186.1 465 Missense Mutation ATC,GTC I42V NP_001277115.1
NM_015331.2 465 Missense Mutation ATC,GTC I42V NP_056146.1
XM_005245053.4 465 Missense Mutation ATC,GTC I42V XP_005245110.1
XM_011509363.2 465 Missense Mutation ATC,GTC I42V XP_011507665.1

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