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AGATTTAGCAGCTGCTCCCTGCGGC[C/T]GGGGCAGGCGTTGAGAGTTGCTGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
MIM: 604265 MIM: 613126 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CELSR2 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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CELSR2 - cadherin EGF LAG seven-pass G-type receptor 2 | ||||||
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There are no transcripts associated with this gene. |
PSRC1 - proline and serine rich coiled-coil 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005290.3 | 933 | Intron | NP_001005290.1 | |||
NM_001032291.2 | 933 | Missense Mutation | CAG,CGG | Q,R 235 | NP_001027462.1 | |
NM_032636.7 | 933 | Missense Mutation | CAG,CGG | Q,R 235 | NP_116025.1 | |
XM_005271283.2 | 933 | Missense Mutation | CAG,CGG | Q,R 235 | XP_005271340.1 | |
XM_011542306.2 | 933 | Intron | XP_011540608.1 | |||
XM_017002560.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858049.1 | |
XM_017002561.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858050.1 | |
XM_017002562.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858051.1 | |
XM_017002563.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858052.1 | |
XM_017002564.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858053.1 | |
XM_017002565.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858054.1 | |
XM_017002566.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858055.1 | |
XM_017002567.1 | 933 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016858056.1 | |
XM_017002568.1 | 933 | Missense Mutation | CAG,CGG | Q,R 235 | XP_016858057.1 | |
XM_017002569.1 | 933 | Missense Mutation | CAG,CGG | Q,R 235 | XP_016858058.1 | |
XM_017002570.1 | 933 | Missense Mutation | CAG,CGG | Q,R 235 | XP_016858059.1 | |
XM_017002571.1 | 933 | Intron | XP_016858060.1 | |||
XM_017002572.1 | 933 | Intron | XP_016858061.1 | |||
XM_017002573.1 | 933 | Intron | XP_016858062.1 | |||
XM_017002574.1 | 933 | Intron | XP_016858063.1 | |||
XM_017002575.1 | 933 | Intron | XP_016858064.1 | |||
XM_017002576.1 | 933 | Intron | XP_016858065.1 | |||
XM_017002577.1 | 933 | Intron | XP_016858066.1 |