rs2074296761 Rat Genome Database

rs2074296761 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs2074296761 - Homo sapiens

RGD ID:

151354739

RS ID:

rs2074296761

ClinVar ID:

CV1327806

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC125177413 WRAP53

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	17	7,606,366
GRCh38	17	7,703,048

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_375t1:c.1324A>G NM_001143990.2:c.1324A>G NM_001143991.2:c.1324A>G NM_001143992.2:c.1324A>G More...	08/02/2018	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	WRAP53
Accession:	NM_001143991
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	442

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDADGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:	WRAP53
Accession:	NM_018081
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	442

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDADGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:	WRAP53
Accession:	NM_001143990
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	442

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDADGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:	WRAP53
Accession:	NM_001143992
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	442

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDADGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001819281	CLINVAR
dbSNP (RS)	rs2074296761	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	WRAP53	CLINVAR
OMIM	612661	CLINVAR