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Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606610 | |||||||||||||||||||||||
Literature Links: |
NSFL1C PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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)
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EUR - Not Available | |||||
AMR - Not Available |
NSFL1C - NSFL1 cofactor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206736.1 | 2375 | Missense Mutation | AAG,AGG | K,R 319 | NP_001193665.1 | |
NM_016143.4 | 2375 | Missense Mutation | AAG,AGG | K,R 317 | NP_057227.2 | |
NM_018839.4 | 2375 | Missense Mutation | AAG,AGG | K,R 286 | NP_061327.2 | |
XM_006723592.2 | 2375 | Missense Mutation | AAG,AGG | K,R 208 | XP_006723655.1 | |
XM_006723593.2 | 2375 | Missense Mutation | AAG,AGG | K,R 208 | XP_006723656.1 | |
XM_006723594.2 | 2375 | Missense Mutation | AAG,AGG | K,R 206 | XP_006723657.1 | |
XM_011529300.1 | 2375 | Missense Mutation | AAG,AGG | K,R 322 | XP_011527602.1 | |
XM_011529301.1 | 2375 | Missense Mutation | AAG,AGG | K,R 320 | XP_011527603.1 | |
XM_011529302.2 | 2375 | Missense Mutation | AAG,AGG | K,R 269 | XP_011527604.1 | |
XM_011529304.1 | 2375 | Missense Mutation | AAG,AGG | K,R 266 | XP_011527606.1 | |
XM_011529305.2 | 2375 | Intron | XP_011527607.1 | |||
XM_017027956.1 | 2375 | Missense Mutation | AAG,AGG | K,R 267 | XP_016883445.1 | |
XM_017027957.1 | 2375 | Missense Mutation | AAG,AGG | K,R 268 | XP_016883446.1 | |
XM_017027958.1 | 2375 | Missense Mutation | AAG,AGG | K,R 232 | XP_016883447.1 |
Set Membership: |
HapMap |