Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGACAGCCTCCCAGGGATGCTAAGT[G/T]AGAGGCCAAGACAGCAAAAGCCTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606622 | ||||||||||||||||||||
Literature Links: |
SMARCAL1 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 |
SMARCAL1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127207.1 | 713 | Nonsense Mutation | TGA,TTA | *,L 190 | NP_001120679.1 | |
NM_014140.3 | 713 | Nonsense Mutation | TGA,TTA | *,L 190 | NP_054859.2 |