Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGGGCTTTCTCGGCTTCGAAGCGC[A/G]CCCACTCGTGCTGGATAAAGTGCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606596 MIM: 614767 | ||||||||||||||||||||
Literature Links: |
FKRP 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 |
FKRP - fukutin related protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039885.2 | 275 | Intron | NP_001034974.1 | |||
NM_024301.4 | 275 | Intron | NP_077277.1 | |||
XM_005259247.2 | 275 | Intron | XP_005259304.1 | |||
XM_005259248.2 | 275 | Intron | XP_005259305.1 | |||
XM_005259249.4 | 275 | Intron | XP_005259306.1 | |||
XM_011527306.1 | 275 | Intron | XP_011525608.1 | |||
XM_011527307.1 | 275 | Intron | XP_011525609.1 | |||
XM_017027297.1 | 275 | Intron | XP_016882786.1 |
STRN4 - striatin 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039877.1 | 275 | Missense Mutation | GCG,GTG | A,V 77 | NP_001034966.1 | |
NM_013403.2 | 275 | Missense Mutation | GCG,GTG | A,V 77 | NP_037535.2 | |
XM_006723171.2 | 275 | Missense Mutation | GCG,GTG | A,V 77 | XP_006723234.1 | |
XM_006723172.2 | 275 | Missense Mutation | GCG,GTG | A,V 77 | XP_006723235.1 | |
XM_006723174.2 | 275 | Intron | XP_006723237.1 | |||
XM_011526878.1 | 275 | Missense Mutation | GCG,GTG | A,V 77 | XP_011525180.1 | |
XM_011526879.1 | 275 | Intron | XP_011525181.1 | |||
XM_017026716.1 | 275 | Intron | XP_016882205.1 | |||
XM_017026717.1 | 275 | Intron | XP_016882206.1 | |||
XM_017026718.1 | 275 | Intron | XP_016882207.1 | |||
XM_017026719.1 | 275 | Missense Mutation | GCG,GTG | A,V 77 | XP_016882208.1 |