RGD:8627753 Rat Genome Database

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Variant: RGD:8627753 -  Homo sapiens

RGD ID: 8627753
ClinVar ID: CV82897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ7  COQ7-DT  LOC130058587  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 19,078,991
GRCh38 16 19,067,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.8:g.18986492G>A
NM_016138.4:c.5G>A
NC_000016.10:g.19067669G>A
NC_000016.9:g.19078991G>A
More... 		2kb upstream variant|missense|missense variant|non-coding transcript variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:COQ7
Accession:XM_047433495
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVG
PVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEED
PEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL*

Gene Symbol:COQ7
Accession:XM_047433494
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVG
PVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEED
PEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL*

Gene Symbol:COQ7
Accession:NM_016138
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVG
PVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEED
PEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL*

Gene Symbol:COQ7
Accession:XM_047433496
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVG
PVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEED
PEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL*

Gene Symbol:COQ7
Accession:NM_001370490
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVG
PVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEED
PEKYEELLQAPAYAVLKSIIQAGCRVAIYLSERL*

Gene Symbol:COQ7
Accession:NR_163450
Location:EXON;NON-CODING

Gene Symbol:COQ7
Accession:NR_163448
Location:EXON;NON-CODING

Gene Symbol:COQ7-DT
Accession:NR_119381
Location:EXON;NON-CODING

Gene Symbol:COQ7-DT
Accession:NR_119379
Location:EXON;NON-CODING

Gene Symbol:COQ7-DT
Accession:NR_119380
Location:EXON;NON-CODING

Gene Symbol:COQ7
Accession:NM_001370494
Location:INTRON

Gene Symbol:COQ7
Accession:XM_047433497
Location:INTRON

Gene Symbol:COQ7
Accession:NM_001370489
Location:INTRON

Gene Symbol:COQ7
Accession:XM_047433498
Location:INTRON

Gene Symbol:COQ7
Accession:NM_001370495
Location:INTRON

Gene Symbol:COQ7
Accession:NM_001370492
Location:INTRON

Gene Symbol:COQ7
Accession:NM_001370491
Location:INTRON

Gene Symbol:COQ7
Accession:NM_001190983
Location:INTRON

Gene Symbol:COQ7
Accession:NM_001370493
Location:INTRON

Gene Symbol:COQ7-DT
Accession:NR_119382
Location:INTRON;NON-CODING

Gene Symbol:COQ7
Accession:NR_163449
Location:INTRON;NON-CODING

Variant Samples