RGD:10056019 Rat Genome Database

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Variant: RGD:10056019 -  Homo sapiens

RGD ID: 10056019
ClinVar ID: CV198619
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CYP2U1  LOC107986298  
Reference Nucleotide: AG
Variant Nucleotide: --
Position
Assembly Chr Position
GRCh37 4 108,868,614 - 108,868,616
GRCh38 4 107,947,458 - 107,947,460
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NM_183075.2:c.1209_1210delAG
NG_007961.1:g.20898_20899delAG
NC_000004.12:g.107947458_107947459delAG
NC_000004.11:g.108868614_108868615delAG
More... 		04/25/2014 frameshift variant pathogenic childhood <1 / 1 000 000

Gene Symbol:CYP2U1
Accession:NM_183075
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 403
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF
LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT
KEKGVVFAHYGPVWRQQRKFSHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFSIISNAVSNIICSLCFGQR
FDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKKIIKDHQESLDRENPQDFIDM
YLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNSLLWCLLYMSLNPDVQEKVHEEIERVIGANRAPSLTDKAQM
PYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDFYPNRFLDDQGQLIKKETF
IPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNITISRR*

Gene Symbol:CYP2U1
Accession:XM_005262717
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF
LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT
KEKGEREVVGCGYADAADESPGVVFAHYGPVWRQQRKFSHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFS
IISNAVSNIICSLCFGQRFDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKKII
KDHQESLDRENPQDFIDMYLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNSLLWCLLYMSLNPDVQEKVHEEI
ERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDF
YPNRFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNITIS
RR*

Gene Symbol:CYP2U1
Accession:XM_005262720
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF
LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT
KEKEKVHEEIERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRD
PAIWEKPEDFYPNRFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTL
APHPFNITISRR*

Gene Symbol:LOC107986298
Accession:XR_001741784
Location:INTRON;NON-CODING

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