ENST00000600188.5 RSPH6A

Information
Transcript ID
ENST00000600188.5
Genome
hg19
Position
chr19:46,298,971-46,314,189
Strand
-
CDS length
1,362
Amino acid length
454
Gene symbol
RSPH6A
Gene type
protein-coding
Gene description
radial spoke head 6 homolog A
Gene Entrez Gene ID
81492
Variants

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Target data :
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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Target data :
MGeND data only
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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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Target data :
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
5 46,298,971 46,299,364
4 46,303,704 46,303,821
3 46,305,378 46,305,522
2 46,307,510 46,308,274
1 46,313,861 46,314,189
CDS
Exon number Type Start Stop
5 CDS 46,299,127 46,299,364
4 CDS 46,303,704 46,303,821
3 CDS 46,305,378 46,305,522
2 CDS 46,307,510 46,308,274
1 CDS 46,313,861 46,313,956
Other genome
Genome Chromosome Start End Links
hg38 chr19 45,795,713 45,810,931 Link
CDS sequence
ATGCAGCCCACCTACAAGATGGCGGAGAAACAGAAGGCGCTGTTCACCCGGAGTGGAGGCGGCACTGAAGGCGAACAGGAGATGGAGGAGGAGGTGGGGGAGACACCAGTGCCCAACATCATGGAGACTGCCTTCTACTTCGAGCAGGCCGGCGTCGGCCTGAGCTCGGACGAGAGCTTCCGCATTTTCCTGGCCATGAAACAGCTGGTGGAGCAGCAGCCCATCCACACCTGTCGCTTCTGGGGCAAGATCCTGGGAATCAAACGCAGCTACCTGGTGGCCGAGGTGGAATTCCGGGAGGGCGAGGAGGAGGCAGAGGAGGAGGAGGTGGAGGAGATGACGGAAGGTGGCGAGGTCATGGAGGCGCACGGCGAGGAGGAGGGCGAGGAGGACGAGGAGAAGGCCGTGGACATCGTCCCTAAGTCCGTATGGAAGCCGCCGCCCGTGATCCCCAAGGAGGAGAGCCGCTCAGGCGCCAACAAGTACCTGTACTTTGTGTGCAACGAGCCGGGCCTGCCATGGACGCGGCTGCCCCACGTCACTCCAGCCCAGATCGTGAACGCCCGAAAGATCAAGAAGTTCTTCACAGGCTACCTGGACACGCCAGTCGTCAGCTACCCACCCTTCCCGGGCAACGAGGCCAACTACCTGCGGGCCCAGATAGCCCGCATCTCGGCCGCCACGCAGGTCAGCCCGCTGGGCTTCTACCAGTTTAGTGAGGAGGAGGGCGACGAGGAGGAGGAAGGTGGTGCTGGGCGCGACTCCTACGAGGAGAACCCGGACTTCGAGGGCATCCCCGTGCTGGAGCTGGTCGACTCCATGGCCAACTGGGTGCATCACACACAGCACATCCTGCCGCAGGGCCGCTGCACTTGGGTGAACCCTTTGCAGAAGACAGAGGAGGAGGAGGACCTGGGGGAGGAGGAAGAGAAGGCAGATGAGGGGCCAGAGGAGGTGGAGCAGGAGGTTGGCCCCCCACTGCTAACGCCACTTTCAGAAGATGCAGAAATCATGCACCTGGCACCCTGGACCACCCGCCTGTCCTGCAGCCTCTGCCCGCAGTACTCAGTGGCCGTTGTGCGCTCCAACCTCTGGCCCGGGGCCTATGCCTATGCCAGTGGCAAAAAGTTTGAGAACATCTACATCGGCTGGGGTCACAAGTACAGCCCCGAGAGCTTCAACCCGGCCCTGCCAGCCCCCATTCAACAAGAGTACCCCAGTGGCCCAGAGATCATGGAGATGAGTGACCCCACAGTGGAAGAGGAGCAGGCTCTGAAAGCAGCCCAGGAACAAGCCCTGGGAGCCACAGAGGAGGAGGAGGAGGGCGAGGAGGAGGAGGAGGGCGAGGAGACAGATGACTGA
Amino sequence
MQPTYKMAEKQKALFTRSGGGTEGEQEMEEEVGETPVPNIMETAFYFEQAGVGLSSDESFRIFLAMKQLVEQQPIHTCRFWGKILGIKRSYLVAEVEFREGEEEAEEEEVEEMTEGGEVMEAHGEEEGEEDEEKAVDIVPKSVWKPPPVIPKEESRSGANKYLYFVCNEPGLPWTRLPHVTPAQIVNARKIKKFFTGYLDTPVVSYPPFPGNEANYLRAQIARISAATQVSPLGFYQFSEEEGDEEEEGGAGRDSYEENPDFEGIPVLELVDSMANWVHHTQHILPQGRCTWVNPLQKTEEEEDLGEEEEKADEGPEEVEQEVGPPLLTPLSEDAEIMHLAPWTTRLSCSLCPQYSVAVVRSNLWPGAYAYASGKKFENIYIGWGHKYSPESFNPALPAPIQQEYPSGPEIMEMSDPTVEEEQALKAAQEQALGATEEEEEGEEEEEGEETDD*