Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTCCGGGGGACCTCGCCGAGGCTG[G/T]AGGCCGAGCTCTGCAGGTAAATCCC
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
|
CEPH (CEU) - Not Available | |||
EAS - Not Available | African American
|
YRI (Yoruba) - Not Available | |||
SAS - Not Available | Japanese
|
CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Chinese
|
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 | 206 | Missense Mutation | GGA,GTA | G,V 56 | NP_003110.1 | |
NM_199367.2 | 206 | Missense Mutation | GGA,GTA | G,V 56 | NP_955399.1 | |
XM_005256321.4 | 206 | Missense Mutation | GGA,GTA | G,V 56 | XP_005256378.1 | |
XM_006721264.3 | 206 | Missense Mutation | GGA,GTA | G,V 56 | XP_006721327.1 | |
XM_017023597.1 | 206 | Missense Mutation | GGA,GTA | G,V 56 | XP_016879086.1 | |
XM_017023598.1 | 206 | Missense Mutation | GGA,GTA | G,V 56 | XP_016879087.1 | |
XM_017023599.1 | 206 | Missense Mutation | GGA,GTA | G,V 56 | XP_016879088.1 |
Set Membership: |
DME Validated Inventoried |