RGD:329401435 Rat Genome Database

RGD:329401435 Rat Genome Database

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Variant: RGD:329401435 - Homo sapiens

RGD ID:

329401435

ClinVar ID:

CV2460824

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	13	99,948,279
GRCh38	13	99,296,025

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000013.10:g.99948279C>T NM_004951.4:c.121G>A NP_004942.1:p.Val41Ile NM_004951.5:c.121G>A More...	01/18/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	GPR183
Accession:	NM_004951
Location:	EXON
Amino Acid Prediction:	V to F (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDIQMANNFTPPSATPQGNDCDLYAHHSTARIVMPLHYSLFFIIGLVGNLLALVVIVQNRKKINSTTLYSTNLVISDILF TTALPTRIAYYAMGFDWRIGDALCRITALVFYINTYAGVNFMTCLSIDRFIAVVHPLRYNKIKRIEHAKGVCIFVWILVF AQTLPLLINPMSKQEAERITCMEYPNFEETKSLPWILLGACFIGYVLPLIIILICYSQICCKLFRTAKQNPLTEKSGVNK KALNTIILIIVVFVLCFTPYHVAIIQHMIKKLRFSNFLECSQRHSFQISLHFTVCLMNFNCCMDPFIYFFACKGYKRKVM RMLKRQVSVSISSAVKSAPEENSREMTETQMMIHSKSSNGK*

Gene Symbol:	UBAC2
Accession:	XM_017020553
Location:	INTRON

Gene Symbol:	UBAC2
Accession:	NM_177967
Location:	INTRON

Gene Symbol:	UBAC2
Accession:	XM_011521082
Location:	INTRON

Gene Symbol:	UBAC2
Accession:	XM_047430286
Location:	INTRON

Gene Symbol:	UBAC2
Accession:	NM_001144072
Location:	INTRON

Gene Symbol:	UBAC2
Accession:	XM_011521083
Location:	INTRON

Gene Symbol:	UBAC2
Accession:	NR_026644
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004271138	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	GPR183	CLINVAR
	UBAC2	CLINVAR
OMIM	605741	CLINVAR