Product Details

SNP ID

rs1051046

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:14505142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGATTATTGTCATCAGTATGTGG[G/T]GCCTGTATTCTTACATATTTGATAA

Phenotype

MIM: 600959 MIM: 602854

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COPB1 PubMed Links

Gene Details

Gene

COPB1

Gene Name

coatomer protein complex subunit beta 1

There are no transcripts associated with this gene.

Gene

PSMA1

Gene Name

proteasome subunit alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143937.1	988	Intron			NP_001137409.1
NM_002786.3	988	UTR 3			NP_002777.1
NM_148976.2	988	UTR 3			NP_683877.1

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