RGD:401934181 Rat Genome Database

RGD:401934181 Rat Genome Database

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Variant: RGD:401934181 - Homo sapiens

RGD ID:

401934181

ClinVar ID:

CV2807336

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADSS1 LOC130056631

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	14	105,190,685
GRCh38	14	104,724,348

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_152328.5:c.78G>A NG_027684.2:g.39732G>A NG_191052.1:g.413G>A NG_051175.1:g.5152G>A More...	11/01/2022	synonymous variant	likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	ADSS1
Accession:	NM_152328
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADIISRCQGGNNAGHTVVVDGKEY DFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKGLKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNI GTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMY EALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIGG LLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVE VEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF*

Gene Symbol:	ADSS1
Accession:	XM_006720026
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADIISRCQGGNNAGHTVVVDGKEY DFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKGLKDWEKRLIISDRAHLGDSGQQEAVDGLQEVQRQAQEGKN IGTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFM YEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIG GLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKV EVEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF*

Gene Symbol:	ADSS1
Accession:	NM_199165
Location:	INTRON

Gene Symbol:	ADSS1
Accession:	XM_011536412
Location:	INTRON

Gene Symbol:	ADSS1
Accession:	NM_001320424
Location:	INTRON

Gene Symbol:	ADSS1
Accession:	XM_047430917
Location:	INTRON

Gene Symbol:	ADSS1
Accession:	XM_047430916
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV003411068	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ADSS1	CLINVAR
	LOC130056631	CLINVAR
OMIM	612498	CLINVAR