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AAGCCCACCACCTCGTCCCAGGCTC[A/G]GCTCAGTGTCCTGCTGATGACCCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616434 MIM: 607895 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IST1 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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IST1 - IST1, ESCRT-III associated factor | ||||||
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There are no transcripts associated with this gene. |
PKD1L3 - polycystin 1 like 3, transient receptor potential channel interacting | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181536.1 | 4756 | Nonsense Mutation | CGA,TGA | R,* 1586 | NP_853514.1 | |
XM_017023201.1 | 4756 | Intron | XP_016878690.1 | |||
XM_017023202.1 | 4756 | Intron | XP_016878691.1 | |||
XM_017023203.1 | 4756 | Intron | XP_016878692.1 | |||
XM_017023204.1 | 4756 | Intron | XP_016878693.1 |