Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCTCTCCGCGCGCGCTCTTCCTTC[C/T]GCTCCTGATCCTCGCCTGCCCCGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611551 | ||||||||||||||||||||
Literature Links: |
FBLN7 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 |
FBLN7 - fibulin 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128165.1 | 306 | Missense Mutation | CCG,CTG | P,L 12 | NP_001121637.1 | |
NM_153214.2 | 306 | Missense Mutation | CCG,CTG | P,L 12 | NP_694946.2 | |
XM_006712260.3 | 306 | Missense Mutation | CCG,CTG | P,L 12 | XP_006712323.1 | |
XM_011510585.2 | 306 | Missense Mutation | CCG,CTG | P,L 12 | XP_011508887.1 | |
XM_011510587.2 | 306 | UTR 5 | XP_011508889.1 | |||
XM_017003317.1 | 306 | Missense Mutation | CCG,CTG | P,L 12 | XP_016858806.1 | |
XM_017003318.1 | 306 | Missense Mutation | CCG,CTG | P,L 12 | XP_016858807.1 | |
XM_017003319.1 | 306 | Missense Mutation | CCG,CTG | P,L 12 | XP_016858808.1 |