Product Details

SNP ID
rs78855539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5487869 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTAAGATTGGCTGCATCTTATCT[G/T]CCCATAAGATTTGACTGTACTGCTT
Phenotype
MIM: 610304 MIM: 609178
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DERL2 PubMed Links

Gene Details

Gene
DERL2
Gene Name
derlin 2
There are no transcripts associated with this gene.

Gene
MIS12
Gene Name
MIS12, kinetochore complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258217.1 1005 Intron NP_001245146.1
NM_001258218.1 1005 Intron NP_001245147.1
NM_001258219.1 1005 Intron NP_001245148.1
NM_001258220.1 1005 Intron NP_001245149.1
NM_024039.2 1005 Intron NP_076944.1
XM_005256797.2 1005 Intron XP_005256854.1
XM_017025033.1 1005 UTR 5 XP_016880522.1
XM_017025034.1 1005 Intron XP_016880523.1
XM_017025035.1 1005 Intron XP_016880524.1

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