RGD:155929048 Rat Genome Database

RGD:155929048 Rat Genome Database

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Variant: RGD:155929048 - Homo sapiens

RGD ID:

155929048

ClinVar ID:

CV2281358

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	3	52,326,331
GRCh38	3	52,292,315

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001144951.2:c.585G>C NM_145262.4:c.761G>C NG_023246.1:g.9496G>C NC_000003.12:g.52292315G>C More...	06/27/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	GLYCTK
Accession:	NM_145262
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	254

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

Gene Symbol:	GLYCTK
Accession:	XM_017005730
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQLAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGA TIQELNTIRKALSQLKGGGLAQAAYPAQVVSLILSDVVGDPVEVIATGPTVASSHNVQDCLHILNRYGLRAALPRSVKTV LSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQRQAEALGYQAVVLSAAMQGDVKSMAQFYGLLAHVARTRLTPSMAGAS VEEDAQLHELAAELQIPDLQLEEALETMAWGRGPVCLLAGGEPTVQLQGSGRGGRNQELALRVGAELRRWPLGPIDVLFL SGGTDGQDGPTEAAGAWVTPELASQAAAEGLDIATFLAHNDSHTFFCCLQGGAHLLHTGMTGTNVMDTHLLFLRPR*

Gene Symbol:	GLYCTK
Accession:	NM_001144951
Location:	EXON
Amino Acid Prediction:	Q to H (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGEPHPVRCGGGPCGGDCHWPHRGQFPQCARLPAYPQSLRPPCSPATFCEDCAVSGRL*

Gene Symbol:	GLYCTK
Accession:	XM_024453352
Location:	EXON
Amino Acid Prediction:	Q to H (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGEPHPVRCGGGPCGGDCHWPHRGQFPQCARLPAYPQSLRPPCSPATFCEDCAVSGRL*

Gene Symbol:	GLYCTK
Accession:	XM_024453351
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	254

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

Gene Symbol:	GLYCTK
Accession:	XM_047447465
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIATGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGHPPLVPAASVMA*

Gene Symbol:	GLYCTK
Accession:	XM_047447466
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAALQVLPRLARAPLHPLLWRGSVARLASSMALAEQARQLFESAVGAVLPGPMLHRALSLDPGGRQLKVRDRNFQLRQN LYLVGFGKAVLGMAAAAEELLGQHLVQGVISVPKGIRAAMERAGKQEMLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQ LAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGATIQELNTIRKALSQLKGGGLAQAAYPAQVVSLI LSDVVGDPVEVIATGPTVASSHNVQDCLHILNRYGLRAALPRSVKTVLSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQ RQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGHPPLVPAASVMA*

Gene Symbol:	GLYCTK
Accession:	XM_047447467
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKPHSRVQVFEGAEDNLPDRDALRAALAIQQLAEGLTADDLLLVLISGGGSALLPAPIPPVTLEEKQTLTRLLAARGA TIQELNTIRKALSQLKGGGLAQAAYPAQVVSLILSDVVGDPVEVIATGPTVASSHNVQDCLHILNRYGLRAALPRSVKTV LSRADSDPHGPHTCGHVLNVIIGSNVLALAEAQRQAEALGYQAVVLSAAMQGWGTPAAHRDDRYQCHGHPPLVPAASVMA *

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004141158	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	GLYCTK	CLINVAR
OMIM	610516	CLINVAR