Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGGCTTCAGGAGGAGTGGAACTTG[C/G]AGGAGGCGGAGCGCGATCATGCCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 615283 MIM: 616086 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EXOC8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
EXOC8 - exocyst complex component 8 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_175876.4 | 500 | Intron | NP_787072.2 |
SPRTN - SprT-like N-terminal domain | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010984.3 | 500 | Missense Mutation | CAG,GAG | Q,E 18 | NP_001010984.1 | |
NM_001261462.2 | 500 | Missense Mutation | CAG,GAG | Q,E 18 | NP_001248391.1 | |
NM_032018.6 | 500 | Missense Mutation | CAG,GAG | Q,E 18 | NP_114407.3 | |
XM_006711818.2 | 500 | Missense Mutation | CAG,GAG | Q,E 18 | XP_006711881.1 | |
XM_011544289.2 | 500 | Intron | XP_011542591.1 |