Product Details

SNP ID
rs6095757
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:50087928 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGGCACCAGGTATAGACGATACA[C/T]TGTAGGATATGTATAGCCTATAAAA
Phenotype
MIM: 602995
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TMEM189-UBE2V1 PubMed Links

Gene Details

Gene
TMEM189-UBE2V1
Gene Name
TMEM189-UBE2V1 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_199203.2 Intron NP_954673.1
Gene
UBE2V1
Gene Name
ubiquitin conjugating enzyme E2 V1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032288.2 Intron NP_001027459.1
NM_001257393.1 Intron NP_001244322.1
NM_001257394.1 Intron NP_001244323.1
NM_001257395.1 Intron NP_001244324.1
NM_001257396.1 Intron NP_001244325.1
NM_001257397.1 Intron NP_001244326.1
NM_001257398.1 Intron NP_001244327.1
NM_001257399.1 Intron NP_001244328.1
NM_001282575.2 Intron NP_001269504.1
NM_001282576.1 Intron NP_001269505.1
NM_001282577.2 Intron NP_001269506.1
NM_001282578.2 Intron NP_001269507.1
NM_001282579.1 Intron NP_001269508.1
NM_001282580.1 Intron NP_001269509.1
NM_021988.5 Intron NP_068823.2
NM_022442.5 Intron NP_071887.1
NM_199144.2 Intron NP_954595.1

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