Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTTGGTGAGGCAACAGCAGGCCTT[C/T]CCTCACGCCAGAACAATGGTAAGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610874 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPATC1 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
|
SPATC1 - spermatogenesis and centriole associated 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134374.1 | 295 | Missense Mutation | CCC,TCC | P,S 65 | NP_001127846.1 | |
NM_198572.2 | 295 | Missense Mutation | CCC,TCC | P,S 65 | NP_940974.2 | |
XM_011517021.1 | 295 | Missense Mutation | CCC,TCC | P,S 65 | XP_011515323.1 | |
XM_011517022.2 | 295 | Intron | XP_011515324.1 | |||
XM_011517023.2 | 295 | Intron | XP_011515325.1 | |||
XM_011517024.2 | 295 | Intron | XP_011515326.1 | |||
XM_011517025.2 | 295 | Intron | XP_011515327.1 | |||
XM_017013399.1 | 295 | UTR 5 | XP_016868888.1 |