RGD:156096382 Rat Genome Database

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Variant: RGD:156096382 -  Homo sapiens

RGD ID: 156096382
ClinVar ID: CV2399076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIITA  DEXI  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 11,035,835
GRCh38 16 10,941,978
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014015.4:c.28C>G
NG_016757.1:g.2491G>C
NC_000016.10:g.10941978G>C
NC_000016.9:g.11035835G>C
More... 		02/03/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CIITA
Accession:XM_047434128
Location:3UTRS;EXON

Gene Symbol:CIITA
Accession:XM_011522485
Location:3UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434120
Location:3UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434122
Location:3UTRS;EXON

Gene Symbol:CIITA
Accession:XM_047434117
Location:3UTRS;EXON

Gene Symbol:DEXI
Accession:NM_014015
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGARVAAHLDALGPLVPYVPPPLLPSMFYVGLFFVNVLILYYAFLMEYIVLNVGLVFLPEDMDQALVDLGVLSDPGSGL
YDADSELDVFDAYLE*

Gene Symbol:CIITA
Accession:XR_007064880
Location:EXON;NON-CODING

Gene Symbol:CIITA
Accession:XM_011522484
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522490
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522491
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434123
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434127
Location:INTRON

Gene Symbol:CIITA
Accession:XM_006720880
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379334
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434126
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434119
Location:INTRON

Gene Symbol:CIITA
Accession:NM_000246
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001286402
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434118
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379332
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434115
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434116
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434124
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379330
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379333
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434125
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379331
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434114
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001286403
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522486
Location:INTRON

Gene Symbol:CIITA
Accession:XR_007064879
Location:INTRON;NON-CODING

Gene Symbol:CIITA
Accession:NR_104444
Location:INTRON;NON-CODING

Gene Symbol:CIITA
Accession:XR_001751904
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002784630 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CIITA CLINVAR
  DEXI CLINVAR
OMIM 600005 CLINVAR
  617901 CLINVAR