rs144102805 Rat Genome Database

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Variant: rs144102805 - Homo sapiens

RGD ID:

15172146

RS ID:

rs144102805

ClinVar ID:

CV716642

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CD33 LOC107985327

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	51,728,621
GRCh38	19	51,225,365

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001177608.2:c.185G>A NM_001772.4:c.185G>A NM_001082618.2:c.37+210G>A NC_000019.10:g.51225365G>A More...	07/28/2024	intron variant	likely benign	CD33-related condition; none provided

Variant Details

Variant Transcripts

Gene Symbol:	CD33
Accession:	XM_047439732
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIPSFQAHNNGPTA*

Gene Symbol:	CD33
Accession:	XM_047439731
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFMLITMAPQPEKTRLKDPGVSHQSEDPQEESSQDSSGQE*

Gene Symbol:	CD33
Accession:	XM_011527532
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQ EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPT ETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_047439730
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFMLITMAPQPEKTRLKDPGVSHQSEDPQEESSQDSSGQE*

Gene Symbol:	CD33
Accession:	XM_017027509
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTWKQETRAGVVHGAIGGAGVTALLALCLCLIFFIV KTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVR TQ*

Gene Symbol:	CD33
Accession:	NM_001177608
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQ EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPVR*

Gene Symbol:	CD33
Accession:	XM_017027508
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_047439729
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_011527531
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	NM_001772
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQ EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPT ETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_047439728
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFQEGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XR_007067046
Location:	EXON;NON-CODING

Gene Symbol:	CD33
Accession:	NM_001082618
Location:	INTRON

Gene Symbol:	CD33
Accession:	XM_017027510
Location:	INTRON

Gene Symbol:	LOC107985327
Accession:	XR_001753983
Location:	INTRON;NON-CODING

Gene Symbol:	LOC107985327
Accession:	XR_007067309
Location:	INTRON;NON-CODING

Gene Symbol:	LOC107985327
Accession:	XR_001753982
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000972342	CLINVAR
	RCV004731072	CLINVAR
dbSNP (RS)	rs144102805	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	CD33	CLINVAR
OMIM	159590	CLINVAR

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Variant: rs144102805 - Homo sapiens