RGD:407487950 Rat Genome Database

RGD:407487950 Rat Genome Database

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Variant: RGD:407487950 - Homo sapiens

RGD ID:

407487950

ClinVar ID:

CV3476174

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	4,999,001
GRCh38	6	4,998,767

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001286133.2:c.433+1042A>G NM_001286132.2:c.439A>G NM_006638.4:c.508A>G NC_000006.12:g.4998767T>C More...	05/29/2024	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RPP40
Accession:	NM_006638
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	170

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSK KYERISWSFEEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEL FDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADS PVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	NM_001286132
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFEEKKPLKFDFLLAW HKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFIST YCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVI FNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	XM_011514253
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	170

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSK KYERISWSFEEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEL FDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_047418096
Location:	EXON
Amino Acid Prediction:	K to E (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFEEKKPLKFDFLLAW HKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFIST YCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XR_926031
Location:	EXON;NON-CODING

Gene Symbol:	RPP40
Accession:	XR_007059200
Location:	EXON;NON-CODING

Gene Symbol:	RPP40
Accession:	NM_001286133
Location:	INTRON

Gene Symbol:	RPP40
Accession:	XM_024446309
Location:	INTRON

Gene Symbol:	RPP40
Accession:	XM_047418095
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004665773	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	RPP40	CLINVAR
OMIM	606117	CLINVAR