RGD:405280415 Rat Genome Database

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Variant: RGD:405280415 -  Homo sapiens

RGD ID: 405280415
ClinVar ID: CV3200780
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL25A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 109,863,370
GRCh38 4 108,942,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_032518.4:c.493-777G>A
NM_198721.4:c.493-777G>A
NM_001256074.3:c.547G>A
NG_047204.1:g.365539G>A
More... 		09/24/2019 intron variant benign COL25A1-related condition

Gene Symbol:COL25A1
Accession:NM_001256074
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD
TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD
QGPRGLPGFPTVAALHSNQILTIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQ
KGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQ
KGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGDRGEKGDSGAQGPRGPPGQ
KGDQGATEIIDYNGNLHEALQGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGA
NGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGEPGLNGVKGLKGEPGQKGDRGPLGLPGASGLDGK
PGSRGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGFPGPRGEKGDLGEKGEKVTSPSQHVPCLILLLLSALLFS
LCDSI*

Gene Symbol:COL25A1
Accession:NM_198721
Location:INTRON

Gene Symbol:COL25A1
Accession:NM_032518
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_011532335
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_011532334
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_011532333
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_011532356
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_011532355
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_011532358
Location:INTRON

Gene Symbol:COL25A1
Accession:XM_017008737
Location:INTRON

Gene Symbol:COL25A1
Accession:NR_045756
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV003977405 CLINVAR
NCBI Gene COL25A1 CLINVAR
OMIM 610004 CLINVAR