rs760769376 Rat Genome Database

rs760769376 Rat Genome Database

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Variant: rs760769376 - Homo sapiens

RGD ID:

151719806

RS ID:

rs760769376

ClinVar ID:

CV1505927

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130006596 MED17

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	11	93,517,879
GRCh38	11	93,784,713

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004268.5:c.200C>G NG_028028.1:g.5475C>G NC_000011.10:g.93784713C>G NC_000011.9:g.93517879C>G NP_004259.3:p.Ala67Gly More...	03/18/2022	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	MED17
Accession:	NM_004268
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	67

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGVRAVRISIESACEKQVHEVGLDGTETYLPPLSMSQNLARLAQRIDFSQGSGSEEEEAAGTEGDGQEWPGAGSSADQD DEEGVVKFQPSLWPWDSVRNNLRSALTEMCVLYDVLSIVRDKKFMTLDPVSQDALPPKQNPQTLQLISKKKSLAGAAQIL LKGAERLTKSVTENQENKLQRDFNSELLRLRQHWKLRKVGDKILGDLSYRSAGSLFPHHGTFEVIKNTDLDLDKKIPEDY CPLDVQIPSDLEGSAYIKVSIQKQAPDIGDLGTVNLFKRPLPKSKPGSPHWQTKLEAAQNVLLCKEIFAQLSREAVQIKS QVPHIVVKNQIISQPFPSLQLSISLCHSSNDKKSQKFATEKQCPEDHLYVLEHNLHLLIREFHKQTLSSIMMPHPASAPF GHKRMRLSGPQAFDKNEINSLQSSEGLLEKIIKQAKHIFLRSRAAATIDSLASRIEDPQIQAHWSNINDVYESSVKVLIT SQGYEQICKSIQLQLNIGVEQIRVVHRDGRVITLSYQEQELQDFLLSQMSQHQVHAVQQLAKVMGWQVLSFSNHVGLGPI ESIGNASAITVASPSGDYAISVRNGPESGSKIMVQFPRNQCKDLPKSDVLQDNKWSHLRGPFKEVQWNKMEGRNFVYKME LLMSALSPCLL*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002039905	CLINVAR
dbSNP (RS)	rs760769376	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	LOC130006596	CLINVAR
	MED17	CLINVAR
OMIM	603810	CLINVAR