RGD:156406156 Rat Genome Database

RGD:156406156 Rat Genome Database

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Variant: RGD:156406156 - Homo sapiens

RGD ID:

156406156

ClinVar ID:

CV1894762

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CYP2U1 LOC107986298

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	108,866,301
GRCh38	4	107,945,145

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_183075.3:c.666C>T NG_007961.1:g.18585C>T NC_000004.12:g.107945145C>T NC_000004.11:g.108866301C>T NP_898898.1:p.Ser222= More...	02/18/2022	synonymous variant	likely benign

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1894762	Human	paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1894762	Human	Spastic paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

Gene Symbol:	CYP2U1
Accession:	NM_183075
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	222

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT KEKGVVFAHYGPVWRQQRKFSHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFSIISNAVSNIICSLCFGQR FDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKKIIKDHQESLDRENPQDFIDM YLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNSLLWCLLYMSLNPDVQEKVHEEIERVIGANRAPSLTDKAQM PYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDFYPNRFLDDQGQLIKKETF IPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNITISRR*

Gene Symbol:	CYP2U1
Accession:	XM_005262717
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	240

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT KEKGEREVVGCGYADAADESPGVVFAHYGPVWRQQRKFSHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFS IISNAVSNIICSLCFGQRFDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKKII KDHQESLDRENPQDFIDMYLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNSLLWCLLYMSLNPDVQEKVHEEI ERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDF YPNRFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNITIS RR*

Gene Symbol:	CYP2U1
Accession:	XM_005262720
Location:	INTRON

Gene Symbol:	LOC107986298
Accession:	XR_001741784
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003070255	CLINVAR
MedGen	C0037772	CLINVAR
NCBI Gene	CYP2U1	CLINVAR
OMIM	610670	CLINVAR