RGD:15151304 Rat Genome Database

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Variant: RGD:15151304 -  Homo sapiens

RGD ID: 15151304
RS ID: rs372374186
ClinVar ID: CV730844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HIP1R  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 123,341,766
GRCh38 12 122,857,219
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001303099.2:c.1783T>C
NM_003959.3:c.1815+4T>C
NM_001303097.2:c.1819T>C
NC_000012.12:g.122857219T>C
More... 		08/09/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HIP1R
Accession:NM_001303099
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 595
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEARFSPINQILPWCRQDLAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSSILSWKFCHVLHK
VLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNI
FQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHSCLPADTLQGHRDR
FHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEDEEPENLIEISTGPPAGEPVV
VADLFDQTFGPPNGSVKDDRDLQIESLKREVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQL
RHELAQLRAAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQSQEEVARVKEQL
AFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQSKSELSSRLDTLSAEKDALSGAVRQREADLLA
AQSLVRETEAALSREQQRSSQEQGELQGRLAERVRPPQMQQHH*

Gene Symbol:HIP1R
Accession:NM_001303097
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 607
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSS
ILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEV
LEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHSC
LPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEDEEPENLIE
ISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLKREVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRK
QKQKALVDNEQLRHELAQLRAAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQ
SQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQSKSELSSRLDTLSAEKDALS
GAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQGRLAERVRPPQMQQHH*

Gene Symbol:HIP1R
Accession:NM_003959
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879568 CLINVAR
dbSNP (RS) rs372374186 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HIP1R CLINVAR
OMIM 605613 CLINVAR