Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTCCCTCTGAGAATTATCAACTAT[A/C]TGATAGTCCTCAAGGAGAGTGTGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 607111 | ||||||||||||||||||||
Literature Links: |
CCDC169 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CCDC169 - coiled-coil domain containing 169 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
CCDC169-SOHLH2 - CCDC169-SOHLH2 readthrough | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SPG20 - spastic paraplegia 20 (Troyer syndrome) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142294.1 | 2174 | Missense Mutation | NP_001135766.1 | |||
NM_001142295.1 | 2174 | Missense Mutation | NP_001135767.1 | |||
NM_001142296.1 | 2174 | Missense Mutation | NP_001135768.1 | |||
NM_015087.4 | 2174 | Missense Mutation | NP_055902.1 | |||
XM_005266313.4 | 2174 | Missense Mutation | XP_005266370.1 | |||
XM_005266314.3 | 2174 | Missense Mutation | XP_005266371.1 | |||
XM_005266315.3 | 2174 | Missense Mutation | XP_005266372.1 | |||
XM_005266317.3 | 2174 | Missense Mutation | XP_005266374.1 | |||
XM_011535012.2 | 2174 | Missense Mutation | XP_011533314.1 |