rs35611758 Rat Genome Database

rs35611758 Rat Genome Database

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Variant: rs35611758 - Homo sapiens

RGD ID:

11550585

RS ID:

rs35611758

ClinVar ID:

CV255170

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BUB1B BUB1B-PAK6 LOC107984763

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	40,512,906
GRCh38	15	40,220,705

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
LRG_489t1:c.3099A>G LRG_489:g.64697A>G NG_016338.1:g.64697A>G NC_000015.10:g.40220705A>G More...	12/08/2020	intron variant\|synonymous variant	benign	antenatal	<1 / 1 000 000	AllHighlyPenetrant; Colorectal cancer, somatic; Malignant Colorectal Neoplasm; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Warburton-Anyane-Yeboa syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV255170	Human	colorectal cancer		IAGP		8554872	ClinVar Annotator: match by term: Colorectal cancer	ClinVar	PMID:25741868 and PMID:28492532
CV255170	Human	mosaic variegated aneuploidy syndrome 1		IAGP		8554872	ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV255170	Human	Colon cancer		IAGP		8554872	ClinVar Annotator: match by term: Colorectal cancer	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	BUB1B-PAK6
Accession:	NM_001128629
Location:	5UTRS;INTRON

Gene Symbol:	BUB1B-PAK6
Accession:	NM_001128628
Location:	5UTRS;INTRON

Gene Symbol:	BUB1B
Accession:	NM_001211
Location:	EXON
Amino Acid Prediction:	K to K (synonymous)
Amino Acid Position:	1033

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGK LTSPGALLFQ*

Gene Symbol:	LOC107984763
Accession:	XR_001751506
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000251949	CLINVAR
	RCV000471759	CLINVAR
	RCV001689822	CLINVAR
	RCV003316389	CLINVAR
dbSNP (RS)	rs35611758	CLINVAR
MedGen	C0346629	CLINVAR
	C1850343	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	106821730	CLINVAR
	BUB1B	CLINVAR
OMIM	114500	CLINVAR
	257300	CLINVAR
	602860	CLINVAR