rs9813489 Rat Genome Database

rs9813489 Rat Genome Database

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Variant: rs9813489 - Homo sapiens

RGD ID:

13462412

RS ID:

rs9813489

ClinVar ID:

CV439102

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	52,326,751
GRCh38	3	52,292,735

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000003.11:g.52326751C>T NC_000003.12:g.52292735C>T NG_023246.1:g.9916C>T NP_660305.2:p.Thr394Ile More...	01/24/2024	3 prime utr variant\|missense variant	benign\|likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	GLYCTK
Accession:	NM_001144951
Location:	3UTRS;EXON

Gene Symbol:	GLYCTK
Accession:	XM_024453352
Location:	3UTRS;EXON

Gene Symbol:	GLYCTK
Accession:	NM_145262
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	394

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

Gene Symbol:	GLYCTK
Accession:	XM_024453351
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	394

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

Gene Symbol:	GLYCTK
Accession:	XM_017005730
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQLAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGA TIQELNTIRKALSQLKGGGLAQAAYPAQVVSLILSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTV LSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQRQAEALGYQAVVLSAAMQGDVKSMAQFYGLLAHVARTRLTPSMAGAS VEEDAQLHELAAELQIPDLQLEEALEIMAWGRGPVCLLAGGEPTVQLQGSGRGGRNQELALRVGAELRRWPLGPIDVLFL SGGTDGQDGPTEAAGAWVTPELASQAAAEGLDIATFLAHNDSHTFFCCLQGGAHLLHTGMTGTNVMDTHLLFLRPR*

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

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

Gene Symbol:	GLYCTK
Accession:	XM_047447465
Location:	INTRON

Gene Symbol:	GLYCTK
Accession:	XM_047447466
Location:	INTRON

Gene Symbol:	GLYCTK
Accession:	XM_047447467
Location:	INTRON

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000514109	CLINVAR
dbSNP (RS)	rs9813489	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	GLYCTK	CLINVAR
OMIM	610516	CLINVAR