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TAAAAGGATCCCAAAGTAACAAGCC[A/G]TGGCCCGCTGGTCAGACTTGGAAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609721 | ||||||||||||||||||||
Literature Links: |
C7orf69 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 |
C7orf69 - chromosome 7 open reading frame 69 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001302627.1 | 8172 | Intron | NP_001289556.1 | |||
NM_025031.2 | 8172 | Intron | NP_079307.2 |
PKD1L1 - polycystin 1 like 1, transient receptor potential channel interacting | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138295.3 | 8172 | Missense Mutation | ACG,ATG | T,M 2713 | NP_612152.1 | |
XM_017011798.1 | 8172 | Missense Mutation | ACG,ATG | T,M 2772 | XP_016867287.1 |