rs777134729 Rat Genome Database

rs777134729 Rat Genome Database

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Variant: rs777134729 - Homo sapiens

RGD ID:

13836550

RS ID:

rs777134729

ClinVar ID:

CV587825

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SCP2

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	53,443,983
GRCh38	1	52,978,311

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_002979.5:c.769C>G NG_012211.1:g.56036C>G NC_000001.11:g.52978311C>G NC_000001.10:g.53443983C>G More...	09/27/2022	missense variant	uncertain significance	none provided

Gene Symbol:	SCP2
Accession:	NM_002979
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

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

Gene Symbol:	SCP2
Accession:	NM_001193600
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	213

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

Gene Symbol:	SCP2
Accession:	NM_001193599
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	233

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

Gene Symbol:	SCP2
Accession:	NM_001193617
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	176

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQ MFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAF VQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGL CPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVVT LYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKVKDGPGGKEATWVVDVKNG KGSVLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL*

Gene Symbol:	SCP2
Accession:	NM_001007098
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	213

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGVAECVLALGFEKM SKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEY SLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEA ARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGGHS CS*

Gene Symbol:	SCP2
Accession:	XM_005271103
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVV TLYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEIRRLTAQSQWLTQTSWL*

Gene Symbol:	SCP2
Accession:	XM_011541935
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLKNLGENDVRRSGILTKGPSIFKSNHGLSRLLCKRLPK*

Gene Symbol:	SCP2
Accession:	NM_001330587
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGGHSCS*

Gene Symbol:	SCP2
Accession:	XM_047427504
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVV TLYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEIRRLTAQSQWLTQTSWL*

Gene Symbol:	SCP2
Accession:	XM_047427507
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLKNLGENDVRRSGILTKGPSIFKSNHGLSRLLCKRLPK*

Gene Symbol:	SCP2
Accession:	XM_047427506
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSL GMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAP QMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA FVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALG LCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLKNLGENDVRRSGILTKGPSIFKSNHGLSRLLCKRLPK*

Gene Symbol:	SCP2
Accession:	XM_047427508
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	213

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGVAECVLALGFEKM SKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEY SLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEILAEEMMTDLPSSFEEKSIIKMVGFDMSKEA ARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLKN LGENDVRRSGILTKGPSIFKSNHGLSRLLCKRLPK*

Gene Symbol:	SCP2
Accession:	NM_001007099
Location:	INTRON

Gene Symbol:	SCP2
Accession:	NM_001007250
Location:	INTRON

Gene Symbol:	SCP2
Accession:	NM_001007100
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000732699	CLINVAR
dbSNP (RS)	rs777134729	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	SCP2	CLINVAR
OMIM	184755	CLINVAR