Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 600362 MIM: 600966 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
FLII PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU)
|
||||||
EAS
|
African American - Not Available | YRI (Yoruba)
|
||||||
SAS
|
Chinese - Not Available | JPT (Japanese)
|
||||||
AFR
|
Japanese - Not Available | CHB (Han Chinese)
|
||||||
EUR
|
||||||||
AMR
|
FLII - FLII, actin remodeling protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256264.1 | 3740 | Missense Mutation | CAC,CGC | H,R 1232 | NP_001243193.1 | |
NM_001256265.1 | 3740 | Missense Mutation | CAC,CGC | H,R 1188 | NP_001243194.1 | |
NM_002018.3 | 3740 | Missense Mutation | CAC,CGC | H,R 1243 | NP_002009.1 | |
XM_005256555.3 | 3740 | Missense Mutation | CAC,CGC | H,R 1270 | XP_005256612.1 | |
XM_005256556.3 | 3740 | Missense Mutation | CAC,CGC | H,R 1269 | XP_005256613.1 | |
XM_005256558.2 | 3740 | Missense Mutation | CAC,CGC | H,R 1242 | XP_005256615.1 |
LLGL1 - LLGL1, scribble cell polarity complex component | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004140.3 | 3740 | Intron | NP_004131.3 | |||
XM_011523849.2 | 3740 | Intron | XP_011522151.1 | |||
XM_011523850.2 | 3740 | Intron | XP_011522152.1 | |||
XM_011523851.2 | 3740 | Intron | XP_011522153.1 | |||
XM_011523852.2 | 3740 | Intron | XP_011522154.1 | |||
XM_011523853.2 | 3740 | Intron | XP_011522155.1 | |||
XM_011523854.2 | 3740 | Intron | XP_011522156.1 | |||
XM_011523855.2 | 3740 | Intron | XP_011522157.1 | |||
XM_011523856.1 | 3740 | Intron | XP_011522158.1 |
Set Membership: |
HapMap |