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GTCCAGGGCGAGACAGTTGCTGGAC[A/C]TCTTGCTGGGGAGAGTGGCCCTGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
FRMD1 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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FRMD1 - FERM domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122841.2 | 1501 | Missense Mutation | AGG,ATG | R,M 461 | NP_001116313.1 | |
NM_024919.4 | 1501 | Missense Mutation | AGG,ATG | R,M 529 | NP_079195.3 | |
XM_011536137.1 | 1501 | Missense Mutation | AGG,ATG | R,M 594 | XP_011534439.1 | |
XM_011536138.1 | 1501 | Missense Mutation | AGG,ATG | R,M 532 | XP_011534440.1 | |
XM_011536140.1 | 1501 | Missense Mutation | AGG,ATG | R,M 505 | XP_011534442.1 | |
XM_011536141.1 | 1501 | Missense Mutation | AGG,ATG | R,M 486 | XP_011534443.1 | |
XM_011536142.2 | 1501 | Missense Mutation | AGG,ATG | R,M 486 | XP_011534444.1 | |
XM_011536143.1 | 1501 | Missense Mutation | AGG,ATG | R,M 486 | XP_011534445.1 | |
XM_011536145.1 | 1501 | Missense Mutation | AGG,ATG | R,M 484 | XP_011534447.1 | |
XM_011536146.2 | 1501 | Missense Mutation | AGG,ATG | R,M 323 | XP_011534448.1 | |
XM_017011317.1 | 1501 | Missense Mutation | AGG,ATG | R,M 571 | XP_016866806.1 | |
XM_017011318.1 | 1501 | Missense Mutation | AGG,ATG | R,M 323 | XP_016866807.1 |