RGD:12849370 Rat Genome Database

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Variant: RGD:12849370 -  Homo sapiens

RGD ID: 12849370
RS ID: rs140655913
ClinVar ID: CV364104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL4I1  NUP62  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 50,412,505
GRCh38 19 49,909,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021170.1:g.25258C>T
NG_023448.1:g.25484C>T
NC_000019.10:g.49909248G>A
NP_057637.2:p.Thr187Met
More... 		09/19/2018 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IL4I1
Accession:NM_172374
Location:5UTRS;INTRON

Gene Symbol:IL4I1
Accession:NM_001258017
Location:5UTRS;INTRON

Gene Symbol:IL4I1
Accession:NM_001258018
Location:5UTRS;INTRON

Gene Symbol:NUP62
Accession:NM_153718
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPAKLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_001193357
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPAKLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_016553
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPAKLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_153719
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPAKLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_012346
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPAKLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:IL4I1
Accession:NM_152899
Location:INTRON

Gene Symbol:IL4I1
Accession:NM_001385639
Location:INTRON

Gene Symbol:IL4I1
Accession:NR_047577
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000428843 CLINVAR
dbSNP (RS) rs140655913 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL4I1 CLINVAR
  NUP62 CLINVAR
OMIM 605815 CLINVAR
  609742 CLINVAR