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TTTTAGGAGCTACCTCTCACCAGAG[G/T]CAGGATCTTGGCATCTGGACTTGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607114 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAM33 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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ADAM33 - ADAM metallopeptidase domain 33 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282447.2 | 2498 | Nonsense Mutation | TGA,TGC | *,C 810 | NP_001269376.1 | |
NM_025220.4 | 2498 | Nonsense Mutation | TGA,TGC | *,C 811 | NP_079496.1 | |
NM_153202.3 | 2498 | Nonsense Mutation | TGA,TGC | *,C 785 | NP_694882.1 | |
XM_005260843.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 824 | XP_005260900.1 | |
XM_006723639.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 823 | XP_006723702.1 | |
XM_006723640.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 821 | XP_006723703.1 | |
XM_006723644.2 | 2498 | Intron | XP_006723707.1 | |||
XM_011529366.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 823 | XP_011527668.1 | |
XM_011529367.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 810 | XP_011527669.1 | |
XM_011529368.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 798 | XP_011527670.1 | |
XM_011529370.1 | 2498 | Intron | XP_011527672.1 | |||
XM_011529371.1 | 2498 | Intron | XP_011527673.1 | |||
XM_011529373.1 | 2498 | Nonsense Mutation | TGA,TGC | *,C 490 | XP_011527675.1 | |
XM_017028080.1 | 2498 | Intron | XP_016883569.1 | |||
XM_017028081.1 | 2498 | Intron | XP_016883570.1 | |||
XM_017028082.1 | 2498 | Intron | XP_016883571.1 | |||
XM_017028083.1 | 2498 | Intron | XP_016883572.1 |
GFRA4 - GDNF family receptor alpha 4 | ||||||
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There are no transcripts associated with this gene. |