RGD:8633947 Rat Genome Database

RGD:8633947 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Variant: RGD:8633947 - Homo sapiens

RGD ID:

8633947

ClinVar ID:

CV89163

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	134,129,569
GRCh38	11	134,259,675

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_448t1:c.635C>T NM_014384.2:c.635C>T LRG_448:g.11136C>T NG_015842.1:g.11136C>T More...		missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	ACAD8
Accession:	XM_047426769
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSRKNFKKWPLTLLPERWLQIWQSGTRSMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKK QGDHYILNGSKAFISGAGESDIYVVMCRTGGPGLKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANR IGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAV ALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAPFSNLSLCWNRLEGMGAQI AGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

Gene Symbol:	ACAD8
Accession:	XM_011542750
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGLKGISCIVVEKGTPGLSFGKKEKKVGWNS QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEAP FSNLSLCWNRLEGMGAQIAGLNPRASAPEGLVWAWEFVSATSLQVRLPQLV*

Gene Symbol:	ACAD8
Accession:	NM_014384
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGLKGISCIVVEKGTPGLSFGKKEKKVGWNS QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGS NEVMRILISRSLLQE*

Gene Symbol:	ACAD8
Accession:	XM_005271505
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGLKGISCIVVEKGTPGLSFGKKEKKLLTLV HFVAPGRDA*

Gene Symbol:	ACAD8
Accession:	XM_047426770
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSRKNFKKWPLTLLPERWLQIWQSGTRSMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKK QGDHYILNGSKAFISGAGESDIYVVMCRTGGPGLKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANR IGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAV ALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE*

Gene Symbol:	ACAD8
Accession:	XM_047426768
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRK AAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCL TEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGLKGISCIVVEKGTPGLSFGKKEKKVGWNS QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLA DMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEEL FWQGPGVQSRSFVPFGGPQIALLLPFSSGDLREG*

Gene Symbol:	ACAD8
Accession:	XR_007062474
Location:	EXON;NON-CODING

Variant Samples