Product Details

SNP ID

rs200542439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139346937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTATGGATGAGGAAGTTCAAAGC[A/G]TACTCACGAAAATGACAGGCTTGAA

Phenotype

MIM: 606990 MIM: 605810

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COPB2 PubMed Links

Gene Details

Gene

COPB2

Gene Name

coatomer protein complex subunit beta 2

There are no transcripts associated with this gene.

Gene

MRPS22

Gene Name

mitochondrial ribosomal protein S22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020191.2	189	Missense Mutation	ATA,GTA	I78V	NP_064576.1
XM_005247640.2	189	Missense Mutation	ATA,GTA	I77V	XP_005247697.1
XM_006713703.3	189	Missense Mutation	ATA,GTA	I78V	XP_006713766.1
XM_011512995.2	189	Missense Mutation	ATA,GTA	I37V	XP_011511297.1
XM_011512996.2	189	Missense Mutation	ATA,GTA	I36V	XP_011511298.1

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