rs745398205 Rat Genome Database

rs745398205 Rat Genome Database

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Variant: rs745398205 - Homo sapiens

RGD ID:

151772386

RS ID:

rs745398205

ClinVar ID:

CV1417999

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SCP2

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	53,504,637
GRCh38	1	53,038,965

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001193617.2:c.1144G>A NM_001193600.2:c.1255G>A NM_001007250.3:c.127-8893G>A NM_001193599.2:c.1315G>A More...	09/01/2021	intron variant	uncertain significance	AllHighlyPenetrant; none provided

Gene Symbol:	SCP2
Accession:	NM_001007099
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	59

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKMKDGPGGKEATWVVDVKNGKGS VLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	NM_001007100
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGFPEAARTHQIEAVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKMKDGPGGKEATWVVDVKNGKGSVLP NSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	NM_001193599
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	439

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGDSTCGQRAIYHSLGMTGIPIINVNNNCATGSTALFMA RQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKI GWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEILAQEMMTDLP SSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVI NPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVVTLYKMGFPEAASSFRTHQIEAVPT SSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKMKDGPGGKEATWVVDVKNGKGSVLPNSDKKADCTITMADSDF LALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	NM_002979
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	463

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAQEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVV TLYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKMKDGPGGKEATWVVDVKN GKGSVLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	NM_001193617
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	382

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQ MFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAF VQKYGLQSKAVEILAQEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGL CPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVVT LYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKMKDGPGGKEATWVVDVKNG KGSVLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	NM_001193600
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	419

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGVAECVLALGFEKM SKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEY SLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEILAQEMMTDLPSSFEEKSIIKMVGFDMSKEA ARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQ CAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVVTLYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKL EEEGEQFVKKIGGIFAFKMKDGPGGKEATWVVDVKNGKGSVLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLK ITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	XM_047427507
Location:	INTRON

Gene Symbol:	SCP2
Accession:	NM_001330587
Location:	INTRON

Gene Symbol:	SCP2
Accession:	NM_001007098
Location:	INTRON

Gene Symbol:	SCP2
Accession:	XM_005271103
Location:	INTRON

Gene Symbol:	SCP2
Accession:	NM_001007250
Location:	INTRON

Gene Symbol:	SCP2
Accession:	XM_047427504
Location:	INTRON

Gene Symbol:	SCP2
Accession:	XM_047427506
Location:	INTRON

Gene Symbol:	SCP2
Accession:	XM_047427508
Location:	INTRON

Gene Symbol:	SCP2
Accession:	XM_011541935
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001874580	CLINVAR
	RCV004040463	CLINVAR
dbSNP (RS)	rs745398205	CLINVAR
MedGen	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	SCP2	CLINVAR
OMIM	184755	CLINVAR