rs959069360 Rat Genome Database

rs959069360 Rat Genome Database

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Variant: rs959069360 - Homo sapiens

RGD ID:

14698505

RS ID:

rs959069360

ClinVar ID:

CV623829

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	96,958,829
GRCh38	2	96,293,091

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000002.12:g.96293091G>A NM_014014.5:c.2041C>T NG_016973.1:g.17469C>T NC_000002.11:g.96958829G>A More...	04/01/2021	missense variant	pathogenic\|likely pathogenic	Inherited retinal dystrophy; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; RP 33; Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV623829	Human	fundus dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:21618346 more ...
CV623829	Human	retinitis pigmentosa		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar	PMID:21618346 more ...
CV623829	Human	retinitis pigmentosa 33		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa 33	ClinVar	PMID:21618346 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV623829	Human	Retinal dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:21618346 more ...
CV623829	Human	Rod-cone dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar	PMID:21618346 more ...

Gene Symbol:	SNRNP200
Accession:	NM_014014
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	681

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTKPQMQEERRAKRRKRDEDRHD INKMKGYTLLSEGIDEMVGIIYKPKTKETRETYEVLLSFIQAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLL LGQTDDTRYHVLVNLGKKITDYGGDKEIQNMDDNIDETYGVNVQFESDEEEGDEDVYGEVREEASDDDMEGDEAVVRCTL SANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDRECENQLVLLLGFNTFDFIKV LRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFLYQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGG EALAPRQVLDLEDLVFTQGSHFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKT LNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHINMDGTINVDDFKIIYIAPMRSLVQEMVGSFGKRLA TYGITVAELTGDHQLCKEEISATQIIVCTPEKWDIITRKGGERTYTQLVRLIILDEIHLLHDDRGPVLEALVARAIRNIE MTQEDVRLIGLSATLPNYEDVATFLRVDPAKGLFYFDNSFCPVPLEQTYVGITEKKAIKRFQIMNEIVYEKIMEHAGKNQ VLVFVHSRKETGKTARAIRDMCLEKDTLGLFLREGSASTEVLRTEAEQCKNLELKDLLPYGFAIHHAGMTRVDRTLVEDL FADKHIQVLVSTATLAWGVNLPAHTVIIKGTQVYSPEKGRWTELGALDILQMLGRAGRPQYDTKGEGILITSHGELQYYL SLLNQQLPIESQMVSKLPDMLNAEIVLGNVQNAKDAVNWLGYAYLYIRMLRSPTLYGISHDDLKGDPLLDQRRLDLVHTA ALMLDKNNLVKYDKKTGNFQVTELGRIASHYYITNDTVQTYNQLLKPTLSEIELFRVFSLSSEFKNITVREEEKLELQKL LERVPIPVKESIEEPSAKINVLLQAFISQLKLEGFALMADMVYVTQSAGRLMRAIFEIVLNRGWAQLTDKTLNLCKMIDK RMWQSMCPLRQFRKLPEEVVKKIEKKNFPFERLYDLNHNEIGELIRMPKMGKTIHKYVHLFPKLELSVHLQPITRSTLKV ELTITPDFQWDEKVHGSSEAFWILVEDVDSEVILHHEYFLLKAKYAQDEHLITFFVPVFEPLPPQYFIRVVSDRWLSCET QLPVSFRHLILPEKYPPPTELLDLQPLPVSALRNSAFESLYQDKFPFFNPIQTQVFNTVYNSDDNVFVGAPTGSGKTICA EFAILRMLLQSSEGRCVYITPMEALAEQVYMDWYEKFQDRLNKKVVLLTGETSTDLKLLGKGNIIISTPEKWDILSRRWK QRKNVQNINLFVVDEVHLIGGENGPVLEVICSRMRYISSQIERPIRIVALSSSLSNAKDVAHWLGCSATSTFNFHPNVRP VPLELHIQGFNISHTQTRLLSMAKPVYHAITKHSPKKPVIVFVPSRKQTRLTAIDILTTCAADIQRQRFLHCTEKDLIPY LEKLSDSTLKETLLNGVGYLHEGLSPMERRLVEQLFSSGAIQVVVASRSLCWGMNVAAHLVIIMDTQYYNGKIHAYVDYP IYDVLQMVGHANRPLQDDEGRCVIMCQGSKKDFFKKFLYEPLPVESHLDHCMHDHFNAEIVTKTIENKQDAVDYLTWTFL YRRMTQNPNYYNLQGISHRHLSDHLSELVEQTLSDLEQSKCISIEDEMDVAPLNLGMIAAYYYINYTTIELFSMSLNAKT KVRGLIEIISNAAEYENIPIRHHEDNLLRQLAQKVPHKLNNPKFNDPHVKTNLLLQAHLSRMQLSAELQSDTEEILSKAI RLIQACVDVLSSNGWLSPALAAMELAQMVTQAMWSKDSYLKQLPHFTSEHIKRCTDKGVESVFDIMEMEDEERNALLQLT DSQIADVARFCNRYPNIELSYEVVDKDSIRSGGPVVVLVQLEREEEVTGPVIAPLFPQKREEGWWVVIGDAKSNSLISIK RLTLQQKAKVKLDFVAPATGAHNYTLYFMSDAYMGCDQEYKFSVDVKEAETDSDSD*

ClinVar GRCh37	ClinVar GRCh38

PMID:21618346	PMID:24319334	PMID:24664689	PMID:24940031	PMID:25741868	PMID:28076437	PMID:28492532	PMID:30360737	PMID:30718709	PMID:31054281	PMID:31213501	PMID:31486839
PMID:32531858	PMID:33411470	PMID:33576794	PMID:33691693	PMID:33946315	PMID:34721897	PMID:34906470	PMID:35138024	PMID:36460718	PMID:36819107

Database	Acc Id	Source(s)
ClinVar	RCV000787717	CLINVAR
	RCV001002103	CLINVAR
	RCV001042854	CLINVAR
	RCV003889983	CLINVAR
dbSNP (RS)	rs959069360	CLINVAR
MedGen	C0035334	CLINVAR
	C0854723	CLINVAR
	C1835895	CLINVAR
	C3661900	CLINVAR
NCBI Gene	SNRNP200	CLINVAR
OMIM	268000	CLINVAR
	601664	CLINVAR
	610359	CLINVAR
SNOMED CT	28835009	CLINVAR
	314407005	CLINVAR