rs748723428 Rat Genome Database

rs748723428 Rat Genome Database

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Variant: rs748723428 - Homo sapiens

RGD ID:

151879754

RS ID:

rs748723428

ClinVar ID:

CV1388316

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BUB1B BUB1B-PAK6 LOC107984763

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	15	40,512,856
GRCh38	15	40,220,655

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_489:g.64647G>A NG_016338.1:g.64647G>A NG_033169.1:g.8228G>A NC_000015.10:g.40220655G>A More...	07/17/2023	intron variant	uncertain significance	Warburton-Anyane-Yeboa syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1388316	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
CV1388316	Human	mosaic variegated aneuploidy syndrome 1		IAGP		8554872	ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1	ClinVar	PMID:28492532

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

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

Gene Symbol:	BUB1B
Accession:	NM_001211
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	1017

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001982361	CLINVAR
	RCV003170084	CLINVAR
dbSNP (RS)	rs748723428	CLINVAR
MedGen	C0950123	CLINVAR
	C1850343	CLINVAR
NCBI Gene	BUB1B	CLINVAR
	BUB1B-PAK6	CLINVAR
OMIM	257300	CLINVAR
	602860	CLINVAR