Product Details

SNP ID
rs138519431
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:74449640 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCACTTACTGGGTGAAAGTCAT[C/G]CTCATCATCTGAGAGCCCTTCAAAC
Phenotype
MIM: 609748
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
UBL7 PubMed Links

Gene Details

Gene
UBL7
Gene Name
ubiquitin like 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286739.1 810 Missense Mutation CAT,GAT H234D NP_001273668.1
NM_001286740.1 810 Missense Mutation CAT,GAT H234D NP_001273669.1
NM_001286741.1 810 Missense Mutation CAT,GAT H274D NP_001273670.1
NM_001286742.1 810 Missense Mutation CAT,GAT H274D NP_001273671.1
NM_032907.4 810 Missense Mutation CAT,GAT H234D NP_116296.1
NM_201265.1 810 Missense Mutation CAT,GAT H234D NP_957717.1
XM_011522124.2 810 Missense Mutation CAT,GAT H274D XP_011520426.1

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