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ATCAGTGCAGCTCCAATGTCATCAG[A/G]CAAAATTACTTTTAACCTGGATTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
LRCH2 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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LRCH2 - leucine rich repeats and calponin homology domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243963.1 | 2024 | Missense Mutation | CCT,TCT | P,S 648 | NP_001230892.1 | |
NM_020871.3 | 2024 | Missense Mutation | CCT,TCT | P,S 665 | NP_065922.3 | |
XM_006724724.3 | 2024 | Missense Mutation | CCT,TCT | P,S 658 | XP_006724787.2 | |
XM_017029696.1 | 2024 | Intron | XP_016885185.1 | |||
XM_017029697.1 | 2024 | Intron | XP_016885186.1 |