RGD:13817806 Rat Genome Database

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Variant: RGD:13817806 -  Homo sapiens

RGD ID: 13817806
RS ID: rs868533593
ClinVar ID: CV557694
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCAF17  LOC127275229  METTL8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 172,291,172
GRCh38 2 171,434,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.171434662C>T
NC_000002.11:g.172291172C>T
NP_079276.2:p.Gln29Ter
NM_001321158.2:c.8+12G>A
More... 		02/08/2018 intron variant|nonsense pathogenic 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; 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:METTL8
Accession:NM_024770
Location:5UTRS;INTRON

Gene Symbol:DCAF17
Accession:NM_025000
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHIC
ALKDNSLAKNGIQEMDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLT
VTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEV
YFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:NM_001164821
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHIC
ALKDNSLNENVLTVTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIP
LVESWDVTYSHEVYFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_047445911
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTSKGDTLLLIGDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLNENV
LTVTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSH
EVYFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_017005001
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQTCHHCSLRCHPWRMLFRLEAILGTTSSHLIRRNRKEFSIFVP*

Gene Symbol:DCAF17
Accession:XM_011511882
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTNMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLAKNGIQEMDCCSLE
SDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRVVKKSFNLLDDDPEQ
ETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHIEQKPNRVFSCY
VYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_017004999
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQTCHHCSLRCHPWRMLFRLEAILGTTSSHLIRRNRKEFSIFVP*

Gene Symbol:DCAF17
Accession:XM_017004996
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHIC
ALKDNSLWESPMECVHIASEIAGGMCCWFCFSTACCSLPSRAEPDGTLVVTV*

Gene Symbol:DCAF17
Accession:XM_047445913
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQTCHHCSLRCHPWRMLFRLEAILGTTSSHLIRRNRKEFSIFVP*

Gene Symbol:DCAF17
Accession:XM_047445912
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTNMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLNENVLTVTASGRVV
KKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVL
HIEQKPNRVFSCYVYQMICDTGEEEETINRSC*

Gene Symbol:DCAF17
Accession:XM_011511881
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTRKPNVCSRLSRRALGCFSRDAGVV*RTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVAS
EPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILIVMYSSGLVRLYSFQT
IAEQKEDWIWDQNFSLLTSKGDTLLLIGDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLAKNG
IQEMDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRVVKKS
FNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHIE
QKPNRVFSCYVYQMICDTGEEEETINRSC*

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

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

Gene Symbol:METTL8
Accession:NM_001321156
Location:INTRON

Gene Symbol:DCAF17
Accession:XM_006712768
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321157
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321155
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321159
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321161
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321158
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321160
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321154
Location:INTRON

Gene Symbol:METTL8
Accession:NM_001321162
Location:INTRON

Gene Symbol:METTL8
Accession:NR_135568
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:19026396   PMID:20507343   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000693279 CLINVAR
dbSNP (RS) rs868533593 CLINVAR
MedGen C0342286 CLINVAR
NCBI Gene DCAF17 CLINVAR
  METTL8 CLINVAR
OMIM 241080 CLINVAR
  609525 CLINVAR
  612515 CLINVAR
SNOMED CT 237616002 CLINVAR