RGD:28883970 Rat Genome Database

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Variant: RGD:28883970 -  Homo sapiens

RGD ID: 28883970
RS ID: rs2064466170
ClinVar ID: CV860886
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIPAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,839,446
GRCh38 X 48,983,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020137.5:c.1544T>C
NG_016263.2:g.24233T>C
NC_000023.11:g.48983034A>G
NC_000023.10:g.48839446A>G
More... 		11/01/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GRIPAP1
Accession:NM_020137
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 515
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQALSEEEFQRMQAQLLELRTNNYQLSDELRKNGVELTSLRQKVAYLDKEFSKAQKALSKSKKAQEVEVLLSENEMLQA
KLHSQEEDFRLQNSTLMAEFSKLCSQMEQLEQENQQLKEGAAGAGVAQAGPLVDGELLRLQAENTALQKNVAALQERYGK
EAGKFSAVSEGQGDPPGGLAPTVLAPMPLAEVELKWEMEKEEKRLLWEQLQGLESSKQAETSRLQEELAKLSEKLKKKQE
SFCRLQTEKETLFNDSRNKIEELQQRKEADHKAQLARTQKLQQELEAANQSLAELRDQRQGERLEHAAALRALQDQVSIQ
SADAQEQVEGLLAENNALRTSLAALEQIQTAKTQELNMLREQTTGLAAELQQQQAEYEDLMGQKDDLNSQLQESLRANSR
LLEQLQEIGQEKEQLTQELQEARKSAEKRKAMLDELAMETLQEKSQHKEELGAVRLRHEKEVLGVRARYERELRELHEDK
KRQEEELRGQIREEKARTRELETLQQTVEELQAQAHSMDGAKGWFERRLKEAEESLQQQQQEQEEALKQCREQHAAELKG
KEEELQDVRDQLEQAQEERDCHLKTISSLKQEVKDTVDGQRILEKKGSAALKDLKRQLHLERKRADKLQERLQDILTNSK
SRSGLEELVLSEMNSPSRTQTGDSSSISSFSYREILREKESSAVPARSLSSSPQAQPPRPAELSDEEVAELFQRLAETQQ
EKWMLEEKVKHLEVSSASMAEDLCRKSAIIETYVMDSRIDVSVAAGHTDRSGLGSVLRDLVKPGDENLREMNKKLQNMLE
EQLTKNMHLHKDMEVLSQEIVRLSKECVGPPDPDLEPGETS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001091500 CLINVAR
dbSNP (RS) rs2064466170 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GRIPAP1 CLINVAR
OMIM 300408 CLINVAR