Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAGCCTGCCCAGGCCACAGTCCAC[A/G]TAGTCAAATGGCTCTCACTGGAATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606622 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMARCAL1 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 | JPT (Japanese)
|
||||||
AFR
|
Japanese - Not Available | CHB (Han Chinese)
|
||||||
EUR
|
||||||||
AMR
|
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 | 485 | Missense Mutation | CAT,CGT | H,R 114 | NP_001120679.1 | |
NM_014140.3 | 485 | Missense Mutation | CAT,CGT | H,R 114 | NP_054859.2 | |
XM_005246631.2 | 485 | Missense Mutation | CAT,CGT | H,R 114 | XP_005246688.1 | |
XM_005246632.1 | 485 | Missense Mutation | CAT,CGT | H,R 114 | XP_005246689.1 | |
XM_017004228.1 | 485 | UTR 5 | XP_016859717.1 |
Set Membership: |
HapMap |