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CTGGCCTTCCTTCTGCTCAACTTTC[A/G]TGTCTGCCTCCTTTTGCTTCAGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613593 MIM: 613594 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BTN3A1 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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BTN3A1 - butyrophilin subfamily 3 member A1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145008.1 | 399 | Missense Mutation | CAT,CGT | H,R 15 | NP_001138480.1 | |
NM_001145009.1 | 399 | Missense Mutation | CAT,CGT | H,R 15 | NP_001138481.1 | |
NM_007048.5 | 399 | Missense Mutation | CAT,CGT | H,R 15 | NP_008979.3 | |
NM_194441.2 | 399 | Missense Mutation | CAT,CGT | H,R 15 | NP_919423.1 | |
XM_005248833.2 | 399 | Missense Mutation | CAT,CGT | H,R 15 | XP_005248890.1 | |
XM_005248834.3 | 399 | Missense Mutation | CAT,CGT | H,R 15 | XP_005248891.1 | |
XM_006714983.2 | 399 | Missense Mutation | CAT,CGT | H,R 15 | XP_006715046.1 |