RGD:401747012 Rat Genome Database

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Variant: RGD:401747012 -  Homo sapiens

RGD ID: 401747012
ClinVar ID: CV2678985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC497256  SPATA31E1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 90,502,395
GRCh38 9 87,887,480
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_178828.5:c.2993A>G
NC_000009.12:g.87887480A>G
NC_000009.11:g.90502395A>G
NM_178828.4:c.2993A>G
More...
04/11/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:SPATA31E1
Accession:NM_178828
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 998
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNLVIPLGKGRAGRVESGQRIPPPAPRPSVECTGDDIALQMEKMLFPLKSPSATWLSPSSTPWMMDFILTSVCGLVLLF
LLLLYVHSDPPSPPPGRKRSSREPQRERSGRSRSRKISALKACRILLRELEETRDLNYLLESHLRKLAGEGSSHLPLGGD
PLGDVCKPVPAKAHQPHGKCMQDPSPASLSPPAPPAPLASTLSPGPMTFSEPFGPHSTLSASGPPEPLLPLKCPATQPHV
VFPPSPQPHGPLASSPPPPDSSLAGLQCGSTTCPVPQSSPLHNQVLPPPTRVISGLGCSSDPIWDLYCWREAATTWGLST
YSHGKSQPRHLPDHTSEASFWGDPTPKHMEVGGCTFIHPDVQKLLETLIAKRALMKMWQEKERKRADHPHMTSLGKEWDI
TTLNPFWNVSTQPQQLPRPQQVSDATTVGNHLQQKRSQLFWDLPSLNSESLATTVWVSRNPSSQNAHSVPLDKASTSLPG
EPEVEASSQLSQAPPQPHHMAQPQHFTPAWPQSQPPPLAEIQTQAHLSPPVPSLGCSSPPQIRGCGASYPTSQERTQSVI
PTGKEYLEWPLKKRPKWKRVLPSLLKKSQAVLSQPTAHLPQERPASWSPKSAPILPGVVTSPELPEHWWQGRNAIHQEQS
CGPPSRLQASGDLLQPDGEFPGRPQSQAEDTQQALLPSQPSDFAGKGRKDVQKTGFRSSGRFSDKGCLGSKLGPDPSRDQ
GSGRTSVKALDEDKEAEGDLRRSWKYQSVSSTPRDPDKEHLENKLQIHLARKVGEIKEGWIPMPVRRSWLMAKCAVPKSD
THRKPGKLASWRGGKAHVNTSQELSFLHPCTQQILEVHLVRFCVRHSWGTDLQSLEPINVWSGEAQAPPFPQSTFTPWAS
WVSRVESVPKVPIFLGKRPQNGPGDNRTTSKSVPTVSGPLAAPPPEQEGVQRPPRGSQSADTHGRSEAFPTGHKGRGCSQ
PPTCSLVGRTWQSRTVLESGKPKPRLEGSMGSEMAGNGAWLESESMSPGDPCSSRALQVLSIGSQWARAEDALQALKVGE
KPPTWEVTLGASVRASSGSVQEDLRSTGALGTTGNPSASSVCVAQDPEQLHLKAQVVSEIALIVQVDSEEQLPGRAPGIL
LQDGATGLCLPGRHMDMLTAADRLPTQAPLSTSQSVSGKNMTASQGPCALLWKGGDSPGQQEPGSPKAKAPQKSQKTLGC
ADKGEAHRRPRTGEQGHRSKGPRTSEASGRSHPAQAREIGDKQERKYNQLQLEKGQTPPESHFQRKISHHPQGLHPRKGG
TRWEDVLQKGKPGADAFQSWGSGPPRQFMDCMADKAWTISRVVGQILVDKLGLQWGRGPSEVNRHKGDFRAQENVPSCCH
RGHCHQERSREMRALACSPKATPKGHHCPVKNRGIRDRDSSWAPPPREPVSPAGPHHHRPRMASTSGGPHPQLQELMSAQ
RCLAS*

Gene Symbol:LOC497256
Accession:NR_149022
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV004294998 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC497256 CLINVAR
  SPATA31E1 CLINVAR