RGD:156300839 Rat Genome Database

RGD:156300839 Rat Genome Database

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Variant: RGD:156300839 - Homo sapiens

RGD ID:

156300839

ClinVar ID:

CV2244986

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GLYCTK LOC127397608

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	52,324,527
GRCh38	3	52,290,511

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001144951.2:c.169C>T NM_145262.4:c.169C>T NG_099577.1:g.213C>T NG_023246.1:g.7692C>T More...	09/01/2021	missense variant	uncertain significance	AllHighlyPenetrant

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

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

Gene Symbol:	GLYCTK
Accession:	XM_047447465
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	57

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

Gene Symbol:	GLYCTK
Accession:	NM_145262
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	57

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

Gene Symbol:	GLYCTK
Accession:	NM_001144951
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	57

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

Gene Symbol:	GLYCTK
Accession:	XM_024453352
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	57

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

Gene Symbol:	GLYCTK
Accession:	XM_024453351
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	57

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

Gene Symbol:	GLYCTK
Accession:	XM_047447466
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	57

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

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

Database	Acc Id	Source(s)
ClinVar	RCV004104720	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	GLYCTK	CLINVAR
OMIM	610516	CLINVAR