RGD:151790910 Rat Genome Database

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Variant: RGD:151790910 -  Homo sapiens

RGD ID: 151790910
RS ID: rs554308671
ClinVar ID: CV1480451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL4I1  NUP62  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 50,412,404
GRCh38 19 49,909,147
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258017.2:c.-227-4826C>T
NM_172374.3:c.-227-4826C>T
NM_001258018.2:c.-285-4826C>T
NM_001193357.2:c.661C>T
More... 		08/17/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IL4I1
Accession:NM_001258017
Location:5UTRS;INTRON

Gene Symbol:IL4I1
Accession:NM_172374
Location:5UTRS;INTRON

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

Gene Symbol:NUP62
Accession:NM_001193357
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSIFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_153719
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSIFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_012346
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSIFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_016553
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSIFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPAGIPSNTAAAVTAPPGPGAAA
GAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNAWDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQ
KELEDLLSPLEELVKEQSGTIYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD*

Gene Symbol:NUP62
Accession:NM_153718
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLFSLATQTPATQTTGFTFGTAT
LASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSNLTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSF
TGGSTAQPSGFNIGSAGNSAQPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSIFASIATAPTSSATTGLSLC
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001903856 CLINVAR
dbSNP (RS) rs554308671 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL4I1 CLINVAR
  NUP62 CLINVAR
OMIM 605815 CLINVAR
  609742 CLINVAR