Product Details

SNP ID

rs11170877

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:54340505 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAAGGTATCTGGTTTACCAGTGGTG[A/G]TGGGAGGCTTCAGGACTGAAGGTAT

Phenotype

MIM: 615472 MIM: 613787

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COPZ1 PubMed Links

Gene Details

Gene

COPZ1

Gene Name

coatomer protein complex subunit zeta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271734.1	135	Intron			NP_001258663.1
NM_001271735.1	135	Intron			NP_001258664.1
NM_001271736.1	135	Missense Mutation	ATG,GTG	M1V	NP_001258665.1
NM_016057.2	135	Intron			NP_057141.1
XM_017018997.1	135	Intron			XP_016874486.1

Gene

MIR148B

Gene Name

microRNA 148b

There are no transcripts associated with this gene.

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