RGD:8659408 Rat Genome Database

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Variant: RGD:8659408 -  Homo sapiens

RGD ID: 8659408
RS ID: rs3731980
ClinVar ID: CV134335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCAF17  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 172,336,601
GRCh38 2 171,480,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000002.12:g.171480091T>C
NC_000002.11:g.172336601T>C
NP_079276.2:p.Ala440=
NR_028482.2:n.1566T>C
More... 		10/24/2022 non-coding transcript variant|synonymous variant benign|likely benign|conflicting interpretations of pathogenicity adolescent <1 / 1 000 000 AllHighlyPenetrant; Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabete; Extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome; Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities; none provided; Progressive extrapyramidal disorder with primary hypogonadism and alopecia; Woodhouse and Sakati syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCAF17
Accession:XM_047445912
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTNMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLNENVLTVTASGRVV
KKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVL
HIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_011511882
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTNMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLAKNGIQEMDCCSLE
SDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRVVKKSFNLLDDDPEQ
ETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHIEQKPNRVFSCY
VYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_047445911
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTSKGDTLLLIGDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLNENV
LTVTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSH
EVYFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:NM_025000
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHIC
ALKDNSLAKNGIQEMDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLT
VTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEV
YFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:NM_001164821
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHIC
ALKDNSLNENVLTVTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIP
LVESWDVTYSHEVYFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_006712768
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTPQEVIAVK
SAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQTIAEQFMQ
QKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSL
AKNGIQEMDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRV
VKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLV
LHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_011511881
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 429
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTSKGDTLLLIGDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLAKNG
IQEMDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRVVKKS
FNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHIE
QKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:NR_028482
Location:EXON;NON-CODING

Gene Symbol:DCAF17
Accession:XM_017004996
Location:INTRON

Gene Symbol:DCAF17
Accession:XM_017004999
Location:INTRON

Gene Symbol:DCAF17
Accession:XM_017005001
Location:INTRON

Gene Symbol:DCAF17
Accession:XM_047445913
Location:INTRON

Gene Symbol:DCAF17
Accession:XR_007082530
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:27489925   PMID:28492532   PMID:31347785   PMID:35876063  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000116868 CLINVAR
  RCV000386533 CLINVAR
  RCV001705828 CLINVAR
dbSNP (RS) rs3731980 CLINVAR
MedGen C0342286 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DCAF17 CLINVAR
OMIM 241080 CLINVAR
  612515 CLINVAR
SNOMED CT 237616002 CLINVAR