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TCACTGCCGCAATAGTGGAGTAGTC[A/G]GTGGGCGCGGCCGCGGGTGTCAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609346 | ||||||||||||||||||||
Literature Links: |
ADAMTSL5 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 |
ADAMTSL5 - ADAMTS like 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_213604.2 | 1391 | Nonsense Mutation | CGA,TGA | R,* 362 | NP_998769.2 | |
XM_005259549.3 | 1391 | Nonsense Mutation | CGA,TGA | R,* 372 | XP_005259606.1 | |
XM_011527961.1 | 1391 | Nonsense Mutation | CGA,TGA | R,* 376 | XP_011526263.1 | |
XM_011527963.1 | 1391 | Nonsense Mutation | CGA,TGA | R,* 131 | XP_011526265.1 | |
XM_017026744.1 | 1391 | Nonsense Mutation | CGA,TGA | R,* 366 | XP_016882233.1 | |
XM_017026745.1 | 1391 | Nonsense Mutation | CGA,TGA | R,* 362 | XP_016882234.1 |
REEP6 - receptor accessory protein 6 | ||||||
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There are no transcripts associated with this gene. |