rs766380148 Rat Genome Database

rs766380148 Rat Genome Database

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Variant: rs766380148 - Homo sapiens

RGD ID:

12742983

RS ID:

rs766380148

ClinVar ID:

CV361427

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CYP2U1 LOC107986298

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	108,870,613
GRCh38	4	107,949,457

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_007961.1:g.22897C>T NC_000004.12:g.107949457C>T NC_000004.11:g.108870613C>T NP_898898.1:p.Arg466Ter More...	10/23/2020	nonsense	pathogenic\|likely pathogenic	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Spastic paraplegia 56, autosomal recessive; SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV361427	Human	hereditary spastic paraplegia 56		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive	ClinVar	PMID:25741868

Gene Symbol:	CYP2U1
Accession:	NM_183075
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	466

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

Gene Symbol:	CYP2U1
Accession:	XM_005262717
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	484

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

Gene Symbol:	CYP2U1
Accession:	XM_005262720
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT KEKEKVHEEIERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRD PAIWEKPEDFYPNFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTL APHPFNITISRR

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV000415839	CLINVAR
	RCV001805035	CLINVAR
dbSNP (RS)	rs766380148	CLINVAR
MedGen	C3539507	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CYP2U1	CLINVAR
OMIM	610670	CLINVAR
	615030	CLINVAR