RGD:8648579 Rat Genome Database

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Variant: RGD:8648579 -  Homo sapiens

RGD ID: 8648579
RS ID: rs199476079
ClinVar ID: CV108739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIITA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 11,012,607
GRCh38 16 10,918,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_49t1:c.3149+224C>G
LRG_49:g.46553C>G
NG_009628.1:g.46553C>G
NC_000016.10:g.10918750C>G
More... 		intron|intron variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:CIITA
Accession:XM_011522490
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434127
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379334
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434123
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379331
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434114
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434122
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434116
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434119
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522486
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522491
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379332
Location:INTRON

Gene Symbol:CIITA
Accession:XM_006720880
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379333
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434124
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434126
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434117
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434128
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001286402
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001379330
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434120
Location:INTRON

Gene Symbol:CIITA
Accession:NM_001286403
Location:INTRON

Gene Symbol:CIITA
Accession:NM_000246
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522485
Location:INTRON

Gene Symbol:CIITA
Accession:XM_011522484
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434125
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434115
Location:INTRON

Gene Symbol:CIITA
Accession:XM_047434118
Location:INTRON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000089264 CLINVAR
dbSNP (RS) rs199476079 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CIITA CLINVAR
OMIM 600005 CLINVAR