Product Details

SNP ID

rs141165822

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:160343450 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACCCGGGAAGTCGGGGTCTCCT[C/T]CGCCTTCTGTCTTTCTGCGTCCTAC

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	395	UTR 5			NP_001091868.1
NM_004371.3	395	UTR 5			NP_004362.2

Gene

NCSTN

Gene Name

nicastrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290184.1	395	UTR 5			NP_001277113.1
NM_001290186.1	395	Silent Mutation	CTC,CTT	L18L	NP_001277115.1
NM_015331.2	395	Silent Mutation	CTC,CTT	L18L	NP_056146.1
XM_005245053.4	395	Silent Mutation	CTC,CTT	L18L	XP_005245110.1
XM_011509363.2	395	Silent Mutation	CTC,CTT	L18L	XP_011507665.1

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