Product Details

SNP ID

rs4344328

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:160345196 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGCCCGAGCACTAAGCTGAGA[A/G]ACCTTTTTTTTTTGACACGGAGTTT

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		Intron			NP_001277113.1
NM_001290186.1		Intron			NP_001277115.1
NM_015331.2		Intron			NP_056146.1

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