Product Details

SNP ID

rs113807526

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139358359 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCAAGAAAAGGATGATCAGAAT[G/T]AGGAAGTGGGAGATGATGTTTAAAA

Phenotype

MIM: 606990 MIM: 605810

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COPB2 PubMed Links

Gene Details

Gene

COPB2

Gene Name

coatomer protein complex subunit beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004766.2		Intron			NP_004757.1
XM_017007512.1		Intron			XP_016863001.1
XM_017007513.1		Intron			XP_016863002.1

Gene

MRPS22

Gene Name

mitochondrial ribosomal protein S22

There are no transcripts associated with this gene.

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