RGD:8630498 Rat Genome Database

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Variant: RGD:8630498 -  Homo sapiens

RGD ID: 8630498
ClinVar ID: CV85653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL8A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 99,513,329
GRCh38 3 99,794,485
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.99794485C>T
NC_000003.11:g.99513329C>T
NM_001850.4:c.584C>T
NM_020351.3:c.584C>T
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:COL8A1
Accession:NM_020351
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPHMPLAKDGLAMGKEMPHLQYG
KEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQGPRGEPGPRGPPGPPGLPGHGIPGIKGKPGPQGYPGVGKP
GMPGMPGKPGAMGMPGAKGEIGQKGEIGPMGIPGLQGPPGPHGLPGIGKPGGPGLPGQPGPKGDRGPKGLPGPQGLRGPK
GDKGFGMPGAPGVKGPPGMHGPPGPVGLPGVGKPGVTGFPGPQGPLGKPGAPGEPGPQGPIGVPGVQGPPGIPGIGKPGQ
DGIPGQPGFPGGKGEQGLPGLPGPPGLPGIGKPGFPGPKGDRGMGGVPGALGPRGEKGPIGAPGIGGPPGEPGLPGIPGP
MGPPGAIGFPGPKGEGGIVGPQGPPGPKGEPGLQGFPGKPGFLGEVGPPGMRGLPGPIGPKGEAGQKGVPGLPGVPGLLG
PKGEPGIPGDQGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGLHGPPGKPGALGPQGQPGLPG
PPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHAYGAKKGKNGGPAYEMPAFTAELTAPFPPVGAPVKFNKLLY
NGRQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVWVALFKNNEPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPS
EQAAGLYAGQYVHSSFSGYLLYPM*

Gene Symbol:COL8A1
Accession:NM_001850
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPHMPLAKDGLAMGKEMPHLQYG
KEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQGPRGEPGPRGPPGPPGLPGHGIPGIKGKPGPQGYPGVGKP
GMPGMPGKPGAMGMPGAKGEIGQKGEIGPMGIPGLQGPPGPHGLPGIGKPGGPGLPGQPGPKGDRGPKGLPGPQGLRGPK
GDKGFGMPGAPGVKGPPGMHGPPGPVGLPGVGKPGVTGFPGPQGPLGKPGAPGEPGPQGPIGVPGVQGPPGIPGIGKPGQ
DGIPGQPGFPGGKGEQGLPGLPGPPGLPGIGKPGFPGPKGDRGMGGVPGALGPRGEKGPIGAPGIGGPPGEPGLPGIPGP
MGPPGAIGFPGPKGEGGIVGPQGPPGPKGEPGLQGFPGKPGFLGEVGPPGMRGLPGPIGPKGEAGQKGVPGLPGVPGLLG
PKGEPGIPGDQGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGLHGPPGKPGALGPQGQPGLPG
PPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHAYGAKKGKNGGPAYEMPAFTAELTAPFPPVGAPVKFNKLLY
NGRQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVWVALFKNNEPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPS
EQAAGLYAGQYVHSSFSGYLLYPM*
Variant Samples