ENST00000418527.1 NPHP1

Information
Transcript ID
ENST00000418527.1
Genome
hg38
Position
chr2:110,178,041-110,204,999
Strand
-
CDS length
366
Amino acid length
122
Gene symbol
NPHP1
Gene type
protein-coding
Gene description
nephrocystin 1
Gene Entrez Gene ID
4867
Variants

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MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
4 110,178,041 110,178,547
3 110,179,624 110,179,684
2 110,201,421 110,201,494
1 110,204,900 110,204,999
CDS
Exon number Type Start Stop
4 CDS 110,178,386 110,178,547
3 CDS 110,179,624 110,179,684
2 CDS 110,201,421 110,201,494
1 CDS 110,204,900 110,204,968
Other genome
Genome Chromosome Start End Links
hg19 chr2 110,935,618 110,962,576 Link
CDS sequence
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTGAAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAAGCTCTAGAACCCAATAAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAAAATGCTCTTCAAAAATTAAGCAAAGCTGATGAATCTGCACCTGTTGCAAACTATAATCAGAGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCTGTGACAATAAGCAGAGAAAATATAACTGAGTATGCTTCCTTTCTACCTTTCTTTTTTCTTTTTTAA
Amino sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF*