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TGTAGAGGGGACAGACATAGGCATC[C/T]GACTTTATAATCCGAGATTTTTGAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 603340 | |||||||||||||||||||||||
Literature Links: |
ASB14 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
ASB14 - ankyrin repeat and SOCS box containing 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142733.2 | 11896 | Intron | NP_001136205.2 | |||
NM_130387.5 | 11896 | Intron | NP_569058.1 | |||
XM_017005736.1 | 11896 | Intron | XP_016861225.1 | |||
XM_017005737.1 | 11896 | Intron | XP_016861226.1 |
DNAH12 - dynein axonemal heavy chain 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291661.1 | 11896 | Silent Mutation | TCA,TCG | S,S 3910 | NP_001278590.1 | |
NM_198564.3 | 11896 | Intron | NP_940966.2 | |||
XM_011533466.1 | 11896 | Silent Mutation | TCA,TCG | S,S 3906 | XP_011531768.1 | |
XM_011533467.1 | 11896 | Silent Mutation | TCA,TCG | S,S 3895 | XP_011531769.1 | |
XM_011533468.1 | 11896 | Silent Mutation | TCA,TCG | S,S 3885 | XP_011531770.1 | |
XM_011533469.1 | 11896 | Silent Mutation | TCA,TCG | S,S 3859 | XP_011531771.1 | |
XM_011533471.2 | 11896 | Intron | XP_011531773.1 | |||
XM_011533474.1 | 11896 | Intron | XP_011531776.1 | |||
XM_017005860.1 | 11896 | Intron | XP_016861349.1 | |||
XM_017005861.1 | 11896 | Silent Mutation | TCA,TCG | S,S 3406 | XP_016861350.1 | |
XM_017005862.1 | 11896 | Silent Mutation | TCA,TCG | S,S 2770 | XP_016861351.1 | |
XM_017005863.1 | 11896 | Intron | XP_016861352.1 |