rs147683385 Rat Genome Database

rs147683385 Rat Genome Database

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Variant: rs147683385 - Homo sapiens

RGD ID:

152138598

RS ID:

rs147683385

ClinVar ID:

CV1570934

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GLYCTK LOC127397608

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	3	52,324,438
GRCh38	3	52,290,422

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001144951.2:c.80G>A NM_145262.4:c.80G>A NG_023246.1:g.7603G>A NC_000003.12:g.52290422G>A More...	11/25/2023	missense variant	likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	GLYCTK
Accession:	XM_047447467
Location:	5UTRS;INTRON

Gene Symbol:	GLYCTK
Accession:	XM_017005730
Location:	5UTRS;INTRON

Gene Symbol:	GLYCTK
Accession:	XM_047447465
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVAHLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGHPPLVPAASVMA*

Gene Symbol:	GLYCTK
Accession:	NM_001144951
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVAHLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGEPHPVRCGGGPCGGDCQWPHRGQFPQCARLPAYPQSLRPPCSPATFCEDCAVSGRL*

Gene Symbol:	GLYCTK
Accession:	XM_024453351
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVAHLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGDVKSMAQFYGLLAHVARTRLTPSMAGASVEEDAQLHELAAELQIPDLQLEEALETMAWGRG PVCLLAGGEPTVQLQGSGRGGRNQELALRVGAELRRWPLGPIDVLFLSGGTDGQDGPTEAAGAWVTPELASQAAAEGLDI ATFLAHNDSHTFFCCLQGGAHLLHTGMTGTNVMDTHLLFLRPR*

Gene Symbol:	GLYCTK
Accession:	XM_024453352
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVAHLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGEPHPVRCGGGPCGGDCQWPHRGQFPQCARLPAYPQSLRPPCSPATFCEDCAVSGRL*

Gene Symbol:	GLYCTK
Accession:	XM_047447466
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVAHLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGHPPLVPAASVMA*

Gene Symbol:	GLYCTK
Accession:	NM_145262
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	27

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVAHLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGDVKSMAQFYGLLAHVARTRLTPSMAGASVEEDAQLHELAAELQIPDLQLEEALETMAWGRG PVCLLAGGEPTVQLQGSGRGGRNQELALRVGAELRRWPLGPIDVLFLSGGTDGQDGPTEAAGAWVTPELASQAAAEGLDI ATFLAHNDSHTFFCCLQGGAHLLHTGMTGTNVMDTHLLFLRPR*

Gene Symbol:	GLYCTK
Accession:	NR_026701
Location:	EXON;NON-CODING

Gene Symbol:	GLYCTK
Accession:	NR_026702
Location:	EXON;NON-CODING

Gene Symbol:	GLYCTK
Accession:	NR_026699
Location:	EXON;NON-CODING

Gene Symbol:	GLYCTK
Accession:	NR_026700
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002120046	CLINVAR
dbSNP (RS)	rs147683385	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	GLYCTK	CLINVAR
OMIM	610516	CLINVAR