Product Details

SNP ID

rs3753391

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:160344089 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

TAATGTACTTAAGTGTTTGCTGATA[C/T]GCGTTCATTTACTGATACATGGCTT

Phenotype

MIM: 601924 MIM: 605254

Polymorphism

C/T, 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		Intron			NP_001091868.1
NM_004371.3		Intron			NP_004362.2

Gene

NCSTN

Gene Name

nicastrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290184.1		Intron			NP_001277113.1
NM_001290186.1		Intron			NP_001277115.1
NM_015331.2		Intron			NP_056146.1
XM_005245053.4		Intron			XP_005245110.1
XM_011509363.2		Intron			XP_011507665.1

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