Product Details

SNP ID

rs199872746

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:14505207 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTATCACTTAATGTTCCATTGG[C/T]TCATCAGCCTTTTCTGCAGGTTCAT

Phenotype

MIM: 600959 MIM: 602854

Polymorphism

C/T, Transition 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	923	Intron			NP_001137409.1
NM_002786.3	923	Silent Mutation	GAA,GAG	E259E	NP_002777.1
NM_148976.2	923	Silent Mutation	GAA,GAG	E265E	NP_683877.1

View Full Product Details