Search Thermo Fisher Scientific
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CATGCAGAAAGTGAAGGTCTGTTAG[A/G]AGTCAGCCCAAAAGTCAAGTCAGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 610386 | ||||||||||||||||||||
Literature Links: |
BTBD7 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
BTBD7 - BTB domain containing 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002860.3 | 3352 | Missense Mutation | CCT,TCT | P,S 1070 | NP_001002860.2 | |
NM_001289133.1 | 3352 | Missense Mutation | CCT,TCT | P,S 719 | NP_001276062.1 | |
NM_018167.4 | 3352 | Intron | NP_060637.1 | |||
XM_011536939.2 | 3352 | Missense Mutation | CCT,TCT | P,S 1070 | XP_011535241.1 | |
XM_017021438.1 | 3352 | Missense Mutation | CCT,TCT | P,S 595 | XP_016876927.1 |