Product Details

SNP ID
rs143517734
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:36752858 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTAGCTGAAGCTTCAACAGTTTT[A/C]GAGCTGGTGAGGGATCTAATTGTTG
Phenotype
MIM: 609175 MIM: 605273
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DSN1 PubMed Links

Gene Details

Gene
DSN1
Gene Name
DSN1 homolog, MIS12 kinetochore complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145315.1 1356 Missense Mutation CGA,CTA R334L NP_001138787.1
NM_001145316.1 1356 Missense Mutation CGA,CTA R334L NP_001138788.1
NM_001145317.1 1356 Missense Mutation CGA,CTA R227L NP_001138789.1
NM_001145318.1 1356 Missense Mutation CGA,CTA R318L NP_001138790.1
NM_024918.3 1356 Missense Mutation CGA,CTA R334L NP_079194.3
XM_006723876.2 1356 Missense Mutation CGA,CTA R227L XP_006723939.1
XM_017028070.1 1356 Missense Mutation CGA,CTA R322L XP_016883559.1
XM_017028071.1 1356 Missense Mutation CGA,CTA R322L XP_016883560.1
XM_017028072.1 1356 Missense Mutation CGA,CTA R306L XP_016883561.1
Gene
NDRG3
Gene Name
NDRG family member 3
There are no transcripts associated with this gene.

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