rs2126202687 Rat Genome Database

rs2126202687 Rat Genome Database

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Variant: rs2126202687 - Homo sapiens

RGD ID:

151754686

RS ID:

rs2126202687

ClinVar ID:

CV1335972

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CYP2U1 LOC107986298

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	108,870,565
GRCh38	4	107,949,409

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_183075.3:c.1348C>A NG_007961.1:g.22849C>A NC_000004.12:g.107949409C>A NC_000004.11:g.108870565C>A More...	12/12/2016	missense variant	uncertain significance	Familial spastic paraparesis

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1335972	Human	hereditary spastic paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia	ClinVar	PMID:25741868

Gene Symbol:	CYP2U1
Accession:	XM_005262720
Location:	EXON
Amino Acid Prediction:	H to N (nonsynonymous)
Amino Acid Position:	238

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPF LRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT KEKEKVHEEIERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVNRD PAIWEKPEDFYPNRFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTL APHPFNITISRR*

Gene Symbol:	CYP2U1
Accession:	NM_183075
Location:	EXON
Amino Acid Prediction:	H to N (nonsynonymous)
Amino Acid Position:	450

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

Gene Symbol:	CYP2U1
Accession:	XM_005262717
Location:	EXON
Amino Acid Prediction:	H to N (nonsynonymous)
Amino Acid Position:	468

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001848372	CLINVAR
dbSNP (RS)	rs2126202687	CLINVAR
MedGen	C0037773	CLINVAR
NCBI Gene	CYP2U1	CLINVAR
OMIM	610670	CLINVAR
SNOMED CT	39912006	CLINVAR