Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCGCAGCTGGACCAAGCCCTCCGA[A/C]AGGTGACAACCCCGGGTCACGCCAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 612959 | ||||||||||||||||||||
Literature Links: |
ESRP1 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 |
ESRP1 - epithelial splicing regulatory protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001034915.2 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | NP_001030087.2 | |
NM_001122825.1 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | NP_001116297.1 | |
NM_001122826.1 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | NP_001116298.1 | |
NM_001122827.1 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | NP_001116299.1 | |
NM_017697.3 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | NP_060167.2 | |
XM_005250991.3 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | XP_005251048.1 | |
XM_005250992.3 | 442 | Missense Mutation | AAG,CAG | K,Q 87 | XP_005251049.1 |
LOC100288748 - uncharacterized LOC100288748 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |