RGD:401891630 Rat Genome Database

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Variant: RGD:401891630 -  Homo sapiens

RGD ID: 401891630
ClinVar ID: CV2779263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF559  ZNF559-ZNF177  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 9,452,918
GRCh38 19 9,342,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202408.1:c.*614G>T
NM_001202409.2:c.*614G>T
NM_001202410.2:c.*614G>T
NM_001202411.2:c.*614G>T
More...
06/28/2023 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF559
Accession:NM_001202411
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202409
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202410
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202408
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202412
Location:3UTRS;EXON

Gene Symbol:ZNF559-ZNF177
Accession:NM_001172650
Location:5UTRS;INTRON

Gene Symbol:ZNF559-ZNF177
Accession:NM_001202425
Location:5UTRS;INTRON

Gene Symbol:ZNF559-ZNF177
Accession:NM_001384659
Location:5UTRS;INTRON

Gene Symbol:ZNF559
Accession:NM_032497
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGWLTNYSQDSVTFEDVAVDFTQEEWTLLDQTQRNLYRDVMLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVE
MERNHFGEELFDFNQCEKALSEHSCLKTHRRTYFRKKTCECNQCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQHL
HLVCKKTSQNLHLVCKKTHTQEKPYKCSDCEKGLPSSSHLRECVRIYGGERPYTHKEYVETFSHSTALFVHMQTQDGEKF
YECKACGKPFTESSYLTQHLRTHIRVLPIEHKKFGKAFAFSPDLAKHIRLRTRGKHYVCNECGKEFTCFSKLNIHIRVHT
GEKPYECNKCGKAFTDSSGLIKHRRTHTGEKPYECKECGKAFANSSHLTVHMRTHTGEKPYQCKECGKAFINSSSFKSHM
QTHPGVKPYDCQQCGKAFIRSSFLIRHLRSHSAERPFECEECGKAFRYSSHLSQHKRIHTGERPYKCQKCGQAFSISSGL
TVHMRTHTGERPFECQECGKAFTRSTYLIRHLRSHSVEKPYKECGQTFSNSSCLTECV*

Gene Symbol:ZNF559
Accession:NM_001202407
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVEMERNHFGEELFDFNQCEKALSEHSCLKTHRRTYFRKKTCECN
QCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQHLHLVCKKTSQNLHLVCKKTHTQEKPYKCSDCEKGLPSSSHLRE
CVRIYGGERPYTHKEYVETFSHSTALFVHMQTQDGEKFYECKACGKPFTESSYLTQHLRTHIRVLPIEHKKFGKAFAFSP
DLAKHIRLRTRGKHYVCNECGKEFTCFSKLNIHIRVHTGEKPYECNKCGKAFTDSSGLIKHRRTHTGEKPYECKECGKAF
ANSSHLTVHMRTHTGEKPYQCKECGKAFINSSSFKSHMQTHPGVKPYDCQQCGKAFIRSSFLIRHLRSHSAERPFECEEC
GKAFRYSSHLSQHKRIHTGERPYKCQKCGQAFSISSGLTVHMRTHTGERPFECQECGKAFTRSTYLIRHLRSHSVEKPYK
ECGQTFSNSSCLTECV*

Gene Symbol:ZNF559
Accession:NM_001202406
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRITAAILTARSRWRLRNSISAFLFTVTFAWCPPGLSNLTILSCPDHLSQDVFCLHESKFEEERMVAGWLTNYSQDSVTF
EDVAVDFTQEEWTLLDQTQRNLYRDVMLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVEMERNHFGEELFDFNQC
EKALSEHSCLKTHRRTYFRKKTCECNQCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQHLHLVCKKTSQNLHLVCK
KTHTQEKPYKCSDCEKGLPSSSHLRECVRIYGGERPYTHKEYVETFSHSTALFVHMQTQDGEKFYECKACGKPFTESSYL
TQHLRTHIRVLPIEHKKFGKAFAFSPDLAKHIRLRTRGKHYVCNECGKEFTCFSKLNIHIRVHTGEKPYECNKCGKAFTD
SSGLIKHRRTHTGEKPYECKECGKAFANSSHLTVHMRTHTGEKPYQCKECGKAFINSSSFKSHMQTHPGVKPYDCQQCGK
AFIRSSFLIRHLRSHSAERPFECEECGKAFRYSSHLSQHKRIHTGERPYKCQKCGQAFSISSGLTVHMRTHTGERPFECQ
ECGKAFTRSTYLIRHLRSHSVEKPYKECGQTFSNSSCLTECV*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003355006 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF559 CLINVAR
  ZNF559-ZNF177 CLINVAR