Product Details

SNP ID

rs141933946

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48051235 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGACCTCACAGCTTCCCCCACT[C/T]CGGGAGATCATCCTGGGGCCCAGTT

Phenotype

MIM: 615526 MIM: 163260

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COPZ2 PubMed Links

Gene Details

Gene

COPZ2

Gene Name

coatomer protein complex subunit zeta 2

There are no transcripts associated with this gene.

Gene

NFE2L1

Gene Name

nuclear factor, erythroid 2 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003204.2	768	Silent Mutation	CTC,CTT	L39L	NP_003195.1
XM_005257410.3	768	Silent Mutation	CTC,CTT	L39L	XP_005257467.1
XM_005257411.3	768	Silent Mutation	CTC,CTT	L39L	XP_005257468.1
XM_005257412.3	768	Silent Mutation	CTC,CTT	L39L	XP_005257469.1
XM_005257413.3	768	Silent Mutation	CTC,CTT	L39L	XP_005257470.1
XM_005257415.3	768	Silent Mutation	CTC,CTT	L39L	XP_005257472.1
XM_017024691.1	768	Silent Mutation	CTC,CTT	L39L	XP_016880180.1

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