rs554970016 Rat Genome Database

rs554970016 Rat Genome Database

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Variant: rs554970016 - Homo sapiens

RGD ID:

152985100

RS ID:

rs554970016

ClinVar ID:

CV1673810

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADSS1 LOC124903396

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	14	105,201,447
GRCh38	14	104,735,110

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320424.1:c.-316G>A NM_152328.5:c.283G>A NM_199165.2:c.412G>A NG_051175.1:g.15914G>A More...	08/24/2021	5 prime utr variant	uncertain significance	none provided

Gene Symbol:	ADSS1
Accession:	NM_001320424
Location:	5UTRS;EXON

Gene Symbol:	ADSS1
Accession:	NM_152328
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	95

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

Gene Symbol:	ADSS1
Accession:	NM_199165
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGRSCGVATQRQGGGQRPTNLALTLSSSPAHSTALPWLPPRSLQLLSGHSVPAQPTPHLPSACGGPTRVTLGEERAWRS HGSNAGGHTCLPRRTAGAGSLTPGGERGGNNAGHTVVVDGKEYDFHLLPSGIINTKAMSFIGNGVVIHLPGLFEEAEKNE KKGLKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFK NLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTV GGVCTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFT ALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENHV GVAVKWVGVGKSRESMIQLF*

Gene Symbol:	ADSS1
Accession:	XM_006720026
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	95

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

Gene Symbol:	ADSS1
Accession:	XM_011536412
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGRSCGVATQRQGGGQRPTNLALTLSSSPAHSTALPWLPPRSLQLLSGHSVPAQPTPHLPSACGGPTRVTLGEERAWRS HGSNAGGHTCLPRRTAGAGSLTPGGERGGNNAGHTVVVDGKEYDFHLLPSGIINTKAMSFIGNGVVIHLPGLFEEAEKNE KKGLKDWEKRLIISDRAHLGDSGQQEAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRF KNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCT VGGVCTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGF TALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENH VGVAVKWVGVGKSRESMIQLF*

Gene Symbol:	LOC124903396
Accession:	XR_007064365
Location:	EXON;NON-CODING

Gene Symbol:	ADSS1
Accession:	XM_047430917
Location:	INTRON

Gene Symbol:	ADSS1
Accession:	XM_047430916
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002239737	CLINVAR
dbSNP (RS)	rs554970016	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ADSS1	CLINVAR
OMIM	612498	CLINVAR