rs1488727812 Rat Genome Database

rs1488727812 Rat Genome Database

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Variant: rs1488727812 - Homo sapiens

RGD ID:

127253450

RS ID:

rs1488727812

ClinVar ID:

CV1088986

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127268605 S100PBP YARS1

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	33,282,801
GRCh38	1	32,817,200

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003680.4:c.45C>T LRG_273:g.5833C>T NG_031988.1:g.4759G>A NG_008408.1:g.5833C>T More...	09/05/2023	synonymous variant	likely benign\|uncertain significance	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1088986	Human	Charcot-Marie-Tooth disease dominant intermediate C		IAGP		8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C	ClinVar	PMID:28492532

Gene Symbol:	YARS1
Accession:	XM_011542347
Location:	5UTRS;EXON

Gene Symbol:	S100PBP
Accession:	XM_011541962
Location:	5UTRS;INTRON

Gene Symbol:	YARS1
Accession:	NM_003680
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	15

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED VKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*

Gene Symbol:	S100PBP
Accession:	NM_022753
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	NM_001256121
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_011541963
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_011541961
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_017002098
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_024449177
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_024449176
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428036
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428029
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428035
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428024
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428038
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428037
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428039
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428023
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428040
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	XM_047428041
Location:	INTRON

Gene Symbol:	S100PBP
Accession:	NR_135107
Location:	INTRON;NON-CODING

Gene Symbol:	S100PBP
Accession:	NR_135106
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001426045	CLINVAR
	RCV003320836	CLINVAR
dbSNP (RS)	rs1488727812	CLINVAR
MedGen	C1842237	CLINVAR
	C3661900	CLINVAR
NCBI Gene	S100PBP	CLINVAR
	YARS1	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR
	611889	CLINVAR