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TTTAGAGGAAAATGAAGAGCCCTTC[A/G]TTGCCCCCTTAGGATTGAGCGTCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601945 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SFSWAP PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SFSWAP - splicing factor SWAP homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261411.1 | 660 | Missense Mutation | ATT,GTT | I,V 189 | NP_001248340.1 | |
NM_004592.3 | 660 | Missense Mutation | ATT,GTT | I,V 189 | NP_004583.2 | |
XM_011538653.1 | 660 | Missense Mutation | ATT,GTT | I,V 189 | XP_011536955.1 | |
XM_011538654.2 | 660 | Missense Mutation | ATT,GTT | I,V 63 | XP_011536956.1 | |
XM_011538655.2 | 660 | Missense Mutation | ATT,GTT | I,V 189 | XP_011536957.1 | |
XM_017019798.1 | 660 | Missense Mutation | ATT,GTT | I,V 189 | XP_016875287.1 | |
XM_017019799.1 | 660 | UTR 5 | XP_016875288.1 |