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TGCTACCCACCCTGAGAGCATCCAT[C/G]ACATCAGGCTGCTCCAAGAGCATGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607100 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NPHP1 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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NPHP1 - nephrocystin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000272.3 | 1912 | Silent Mutation | GTC,GTG | V,V 623 | NP_000263.2 | |
NM_001128178.1 | 1912 | Silent Mutation | GTC,GTG | V,V 567 | NP_001121650.1 | |
NM_001128179.1 | 1912 | Silent Mutation | GTC,GTG | V,V 504 | NP_001121651.1 | |
NM_207181.2 | 1912 | Silent Mutation | GTC,GTG | V,V 622 | NP_997064.2 | |
XM_005263676.1 | 1912 | Silent Mutation | GTC,GTG | V,V 567 | XP_005263733.1 | |
XM_005263677.1 | 1912 | Silent Mutation | GTC,GTG | V,V 566 | XP_005263734.1 | |
XM_005263678.2 | 1912 | Silent Mutation | GTC,GTG | V,V 623 | XP_005263735.1 | |
XM_005263679.1 | 1912 | Silent Mutation | GTC,GTG | V,V 566 | XP_005263736.1 | |
XM_006712551.1 | 1912 | Silent Mutation | GTC,GTG | V,V 623 | XP_006712614.1 | |
XM_006712552.2 | 1912 | Intron | XP_006712615.1 | |||
XM_011511244.1 | 1912 | Silent Mutation | GTC,GTG | V,V 623 | XP_011509546.1 | |
XM_017004218.1 | 1912 | Silent Mutation | GTC,GTG | V,V 567 | XP_016859707.1 |