Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AACTGTCACAAACTTACTTACGTTC[G/T]TTTTCAAACAGCTCTCTAACACCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612764 | ||||||||||||||||||||
Literature Links: |
ISY1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
ISY1 - ISY1 splicing factor homolog | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199469.1 | 669 | Missense Mutation | AAA,AAC | K,N 138 | NP_001186398.1 | |
NM_020701.3 | 669 | Missense Mutation | AAA,AAC | K,N 138 | NP_065752.1 |
ISY1-RAB43 - ISY1-RAB43 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204890.1 | 669 | Missense Mutation | AAA,AAC | K,N 138 | NP_001191819.1 |