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AAATGTCTTACCTTCTATTCCCAAT[C/T]TAATCTTCTTAAGACCCCTCTCCTT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615933 | |||||||||||||||||||||||
Literature Links: |
BTBD10 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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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 |
BTBD10 - BTB domain containing 10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297741.1 | 2482 | Intron | NP_001284670.1 | |||
NM_001297742.1 | 2482 | Missense Mutation | AAA,AGA | K,R 376 | NP_001284671.1 | |
NM_032320.6 | 2482 | Intron | NP_115696.2 | |||
XM_017018405.1 | 2482 | Missense Mutation | AAA,AGA | K,R 411 | XP_016873894.1 | |
XM_017018406.1 | 2482 | Intron | XP_016873895.1 | |||
XM_017018407.1 | 2482 | Missense Mutation | AAA,AGA | K,R 403 | XP_016873896.1 | |
XM_017018408.1 | 2482 | Missense Mutation | AAA,AGA | K,R 368 | XP_016873897.1 | |
XM_017018409.1 | 2482 | Intron | XP_016873898.1 | |||
XM_017018410.1 | 2482 | Intron | XP_016873899.1 | |||
XM_017018411.1 | 2482 | Intron | XP_016873900.1 |