Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCCTGGCTCAGGAACAGGGACAGC[A/G]CCTCATCCCCTGGATGGGGGACCAC
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 |
---|---|---|
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 |
SFSWAP - splicing factor SWAP homolog | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261411.1 | 318 | Missense Mutation | CAC,CGC | H,R 59 | NP_001248340.1 | |
NM_004592.3 | 318 | Missense Mutation | CAC,CGC | H,R 59 | NP_004583.2 | |
XM_011538653.1 | 318 | Missense Mutation | CAC,CGC | H,R 59 | XP_011536955.1 | |
XM_011538654.2 | 318 | UTR 5 | XP_011536956.1 | |||
XM_011538655.2 | 318 | Missense Mutation | CAC,CGC | H,R 59 | XP_011536957.1 | |
XM_017019798.1 | 318 | Missense Mutation | CAC,CGC | H,R 59 | XP_016875287.1 | |
XM_017019799.1 | 318 | UTR 5 | XP_016875288.1 |