RGD:156373072 Rat Genome Database

RGD:156373072 Rat Genome Database

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Variant: RGD:156373072 - Homo sapiens

RGD ID:

156373072

ClinVar ID:

CV1953436

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	3	52,327,114
GRCh38	3	52,293,098

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001144951.2:c.*663C>A NM_145262.4:c.1544C>A NG_023246.1:g.10279C>A NC_000003.12:g.52293098C>A More...	11/22/2022	3 prime utr variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

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

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

Gene Symbol:	GLYCTK
Accession:	NM_145262
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	515

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

Gene Symbol:	GLYCTK
Accession:	XM_017005730
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQLAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGA TIQELNTIRKALSQLKGGGLAQAAYPAQVVSLILSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTV LSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQRQAEALGYQAVVLSAAMQGDVKSMAQFYGLLAHVARTRLTPSMAGAS VEEDAQLHELAAELQIPDLQLEEALETMAWGRGPVCLLAGGEPTVQLQGSGRGGRNQELALRVGAELRRWPLGPIDVLFL SGGTDGQDGPTEAAGAWVTPELASQAAAEGLDIATFLAHNDSHTFFCCLQGGAHLLHTGMTGTNVMDNHLLFLRPR*

Gene Symbol:	GLYCTK
Accession:	XM_047447465
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	356

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGQPPLVPAASVMA*

Gene Symbol:	GLYCTK
Accession:	XM_024453351
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	515

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

Gene Symbol:	GLYCTK
Accession:	XM_047447466
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	356

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGQPPLVPAASVMA*

Gene Symbol:	GLYCTK
Accession:	XM_047447467
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQLAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGA TIQELNTIRKALSQLKGGGLAQAAYPAQVVSLILSDVVGDPVEVIASGPTVASSHNVQDCLHILNRYGLRAALPRSVKTV LSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQRQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGQPPLVPAASVMA *

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002582579	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	GLYCTK	CLINVAR
OMIM	610516	CLINVAR