Product Details

SNP ID
rs143274967
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:36304412 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTTACTTCCTTCGTCTGCTCAT[C/T]CTTCTCCCCTCTCACGTTGACATTT
Phenotype
MIM: 607111
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC169 PubMed Links

Gene Details

Gene
CCDC169
Gene Name
coiled-coil domain containing 169
There are no transcripts associated with this gene.

Gene
CCDC169-SOHLH2
Gene Name
CCDC169-SOHLH2 readthrough
There are no transcripts associated with this gene.

Gene
SPG20
Gene Name
spastic paraplegia 20 (Troyer syndrome)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142294.1 2241 Missense Mutation AAT,GAT N652D NP_001135766.1
NM_001142295.1 2241 Missense Mutation AAT,GAT N652D NP_001135767.1
NM_001142296.1 2241 Missense Mutation AAT,GAT N652D NP_001135768.1
NM_015087.4 2241 Missense Mutation AAT,GAT N652D NP_055902.1
XM_005266313.4 2241 Missense Mutation AAT,GAT N652D XP_005266370.1
XM_005266314.3 2241 Missense Mutation AAT,GAT N652D XP_005266371.1
XM_005266315.3 2241 Missense Mutation AAT,GAT N652D XP_005266372.1
XM_005266317.3 2241 Missense Mutation AAT,GAT N652D XP_005266374.1
XM_011535012.2 2241 Missense Mutation AAT,GAT N652D XP_011533314.1

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