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GAGGCCATGGAAGTGCGGTTCTTCA[A/G]GGGCCAGTTCTCTAGCGTGGTCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615606 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BTNL8 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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BTNL8 - butyrophilin like 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040462.2 | 209 | Missense Mutation | AAG,AGG | K,R 57 | NP_001035552.1 | |
NM_001159707.1 | 209 | Intron | NP_001153179.1 | |||
NM_001159708.1 | 209 | Missense Mutation | AAG,AGG | K,R 57 | NP_001153180.1 | |
NM_001159709.1 | 209 | Intron | NP_001153181.1 | |||
NM_001159710.1 | 209 | Intron | NP_001153182.1 | |||
NM_024850.2 | 209 | Missense Mutation | AAG,AGG | K,R 57 | NP_079126.1 | |
XM_011534649.1 | 209 | Missense Mutation | AAG,AGG | K,R 57 | XP_011532951.1 | |
XM_011534650.2 | 209 | Missense Mutation | AAG,AGG | K,R 7 | XP_011532952.1 | |
XM_011534651.2 | 209 | Intron | XP_011532953.1 | |||
XM_011534652.2 | 209 | Intron | XP_011532954.1 | |||
XM_011534653.2 | 209 | Intron | XP_011532955.1 |