Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGCTGGATTTCCCGGGGCCCTTTG[A/G]TGGGGCGTGTCATCACCAGGGTGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 604580 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FBLN5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
FBLN5 - fibulin 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006329.3 | 1792 | Missense Mutation | ACC,ATC | T,I 410 | NP_006320.2 | |
XM_005267267.3 | 1792 | Missense Mutation | ACC,ATC | T,I 427 | XP_005267324.1 | |
XM_011536356.1 | 1792 | UTR 3 | XP_011534658.1 | |||
XM_011536357.1 | 1792 | UTR 3 | XP_011534659.1 | |||
XM_011536358.1 | 1792 | UTR 3 | XP_011534660.1 | |||
XM_017020929.1 | 1792 | Missense Mutation | ACC,ATC | T,I 354 | XP_016876418.1 |
TC2N - tandem C2 domains, nuclear | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |