Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGAAGAATAAGGAGAAGGATAAGT[C/T]GAAGGGGAAGGCGCCTGAAGAGGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 602783 | ||||||||||||||||||||
Literature Links: |
SPG7 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 |
SPG7 - SPG7, paraplegin matrix AAA peptidase subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003119.3 | 386 | Missense Mutation | TCG,TTG | S,L 116 | NP_003110.1 | |
NM_199367.2 | 386 | Missense Mutation | TCG,TTG | S,L 116 | NP_955399.1 | |
XM_005256321.4 | 386 | Nonsense Mutation | TCG,TTG | S,L 116 | XP_005256378.1 | |
XM_006721264.3 | 386 | Nonsense Mutation | TCG,TTG | S,L 116 | XP_006721327.1 | |
XM_017023597.1 | 386 | Nonsense Mutation | TCG,TTG | S,L 116 | XP_016879086.1 | |
XM_017023598.1 | 386 | Nonsense Mutation | TCG,TTG | S,L 116 | XP_016879087.1 | |
XM_017023599.1 | 386 | Nonsense Mutation | TCG,TTG | S,L 116 | XP_016879088.1 |