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TTGGCATTCTTCTCACAGATCCTGC[A/G]GTAGCTGATGTCACATGATGCAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604987 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLEC5A 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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CLEC5A - C-type lectin domain family 5 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301167.1 | 622 | Missense Mutation | CGC,TGC | R,C 157 | NP_001288096.1 | |
NM_013252.2 | 622 | Missense Mutation | CGC,TGC | R,C 180 | NP_037384.1 | |
XM_011515995.2 | 622 | Missense Mutation | CGC,TGC | R,C 137 | XP_011514297.1 | |
XM_017011915.1 | 622 | Missense Mutation | CGC,TGC | R,C 160 | XP_016867404.1 | |
XM_017011916.1 | 622 | Intron | XP_016867405.1 | |||
XM_017011917.1 | 622 | UTR 3 | XP_016867406.1 |