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AATTTTACAGCAGCATTAGAGGCTT[C/T]GCTGTGACTTGATGACGAAGTATTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603668 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SCAF11 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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SCAF11 - SR-related CTD associated factor 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004719.2 | 5845 | Missense Mutation | AAA,GAA | K,E 1347 | NP_004710.2 | |
XM_005269230.2 | 5845 | Missense Mutation | AAA,GAA | K,E 1347 | XP_005269287.2 | |
XM_011538984.2 | 5845 | Missense Mutation | AAA,GAA | K,E 1363 | XP_011537286.1 | |
XM_011538985.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1347 | XP_011537287.1 | |
XM_017020217.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1357 | XP_016875706.1 | |
XM_017020218.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1357 | XP_016875707.1 | |
XM_017020219.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1357 | XP_016875708.1 | |
XM_017020220.1 | 5845 | Intron | XP_016875709.1 | |||
XM_017020221.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1312 | XP_016875710.1 | |
XM_017020222.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1302 | XP_016875711.1 | |
XM_017020223.1 | 5845 | Missense Mutation | AAA,GAA | K,E 1295 | XP_016875712.1 |