rs755707666 Rat Genome Database

rs755707666 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs755707666 - Homo sapiens

RGD ID:

151732228

RS ID:

rs755707666

ClinVar ID:

CV1390124

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	18,979,729
GRCh38	19	18,868,920

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001492.6:c.796G>A NG_012070.1:g.32225G>A NG_033056.1:g.32225G>A NC_000019.9:g.18979729C>T More...	08/19/2023	3 prime utr variant	uncertain significance	AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	CERS1
Accession:	NM_001387440
Location:	3UTRS;EXON

Gene Symbol:	CERS1
Accession:	NM_021267
Location:	3UTRS;EXON

Gene Symbol:	GDF1
Accession:	NM_001387438
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL DPRLCHPLARPRRDAEPVLGGGPGGSCRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:	GDF1
Accession:	NM_001492
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	266

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL DPRLCHPLARPRRDAEPVLGGGPGGSCRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:	CERS1
Accession:	NM_001387442
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387445
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387444
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387443
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001290265
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002554160	CLINVAR
	RCV003331223	CLINVAR
dbSNP (RS)	rs755707666	CLINVAR
MedGen	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	602880	CLINVAR
	606919	CLINVAR