RGD:127230805 Rat Genome Database

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Variant: RGD:127230805 -  Homo sapiens

RGD ID: 127230805
RS ID: rs373541730
ClinVar ID: CV1076516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRHPR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 37,432,014
GRCh38 9 37,432,017
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.37432017C>T
NM_012203.2:c.744C>T
NC_000009.11:g.37432014C>T
NP_036335.1:p.Val248=
More... 		10/02/2020 synonymous variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRHPR
Accession:XM_024447716
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPWTGYCPLSPGALIPQWHEAHPPTHTQGHCVGSLLLSLPEHAQSPLSRNPALPLAKPHPLRTPRATSLPPTPAWPRPG
PATFPGQLLYCQVRVGGCTADETGATHEGVRHPQDTRRGCEVEQWDSDEPIPAKELERGVAGAHGLLCLLSDHVDKRILD
AAGANLKVISTMSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGY
GLTQSTVGIIGLGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKD
FFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCDGPEFCHFEIMCYSISATKNH
YPGMFLIPSLVPHQGRDKQNPVVTMALES*

Gene Symbol:GRHPR
Accession:XM_017015320
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLSDHVDKRILDAAGANLKVIST
MSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIG
LGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF
INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCDGPEFCHFEIMCYSISATKNHYPGMFLIPSLV
PHQGRDKQNPVVTMALES*

Gene Symbol:GRHPR
Accession:NM_012203
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLSDHVDKRILDAAGANLKVIST
MSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIG
LGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF
INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHIGSATHRTRNTMSLLAANNLLAGLRGE
PMPSELKL*

Gene Symbol:GRHPR
Accession:XM_005251631
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRFLYTGRQP
RPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAG
LDVTSPEPLPTNHPLLTLKNCVILPHIGSATHRTRNTMSLLAANNLLAGLRGEPMPSELKL*

Gene Symbol:GRHPR
Accession:XM_017015321
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLSDHVDKRILDAAGANLKVIST
MSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIG
LGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF
INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCDSFTCPSPRTGQTEPSCDHGT*

Gene Symbol:GRHPR
Accession:XM_047424085
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTTNVLGPLGVVTVREPIPPTPTPACVLEGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVV
ACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHI
GSATHRTRNTMSLLAANNLLAGLRGEPMPSELKL*

Gene Symbol:GRHPR
Accession:XM_047424084
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRFLYTGRQP
RPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAG
LDVTSPEPLPTNHPLLTLKNCDGPEFCHFEIMCYSISATKNHYPGMFLIPSLVPHQGRDKQNPVVTMALES*

Gene Symbol:GRHPR
Accession:XM_017015323
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTTNVLGPLGVVTVREPIPPTPTPACVLEGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVV
ACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCDGPEFC
HFEIMCYSISATKNHYPGMFLIPSLVPHQGRDKQNPVVTMALES*

Gene Symbol:GRHPR
Accession:XR_002956828
Location:EXON;NON-CODING

Gene Symbol:GRHPR
Accession:XR_007061375
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001394929 CLINVAR
  RCV002384560 CLINVAR
dbSNP (RS) rs373541730 CLINVAR
MedGen C3661900 CLINVAR
  CN580796 CLINVAR
NCBI Gene GRHPR CLINVAR
OMIM 604296 CLINVAR