RGD:15105183 Rat Genome Database

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Variant: RGD:15105183 -  Homo sapiens

RGD ID: 15105183
RS ID: rs142146558
ClinVar ID: CV697276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTH2R  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 209,271,774
GRCh38 2 208,407,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_005039.1:p.Ala2=
NM_001309516.2:c.-258-21152C>A
NM_001371907.1:c.-258-21152C>A
NM_001371905.1:c.-325-8471C>A
More... 		11/01/2022 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PTH2R
Accession:NM_001309516
Location:5UTRS;INTRON

Gene Symbol:PTH2R
Accession:NM_001371905
Location:5UTRS;INTRON

Gene Symbol:PTH2R
Accession:NM_001371906
Location:5UTRS;INTRON

Gene Symbol:PTH2R
Accession:NM_001371907
Location:5UTRS;INTRON

Gene Symbol:PTH2R
Accession:NM_005048
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLGASLHVWGWLMLGSCLLARAQLDSDGTITIEEQIVLVLKAKVQCELNITAQLQEGEGNCFPEWDGLICWPRGTVGK
ISAVPCPPYIYDFNHKGVAFRHCNPNGTWDFMHSLNKTWANYSDCLRFLQPDISIGKQEFFERLYVMYTVGYSISFGSLA
VAILIIGYFRRLHCTRNYIHMHLFVSFMLRATSIFVKDRVVHAHIGVKELESLIMQDDPQNSIEATSVDKSQYIGCKIAV
VMFIYFLATNYYWILVEGLYLHNLIFVAFFSDTKYLWGFILIGWGFPAAFVAAWAVARATLADARCWELSAGDIKWIYQA
PILAAIGLNFILFLNTVRVLATKIWETNAVGHDTRKQYRKLAKSTLVLVLVFGVHYIVFVCLPHSFTGLGWEIRMHCELF
FNSFQGFFVSIIYCYCNGEVQAEVKKMWSRWNLSVDWKRTPPCGSRRCGSVLTTVTHSTSSQSQVAASTRMVLISGKAAK
IASRQPDSHITLPGYVWSNSEQDCLPHSFHEETKEDSGRQGDDILMEKPSRPMESNPDTEGCQGETEDVL*

Gene Symbol:PTH2R
Accession:NR_163993
Location:INTRON;NON-CODING

Gene Symbol:PTH2R
Accession:NR_163994
Location:INTRON;NON-CODING

Gene Symbol:PTH2R
Accession:NR_163992
Location:INTRON;NON-CODING

Gene Symbol:PTH2R
Accession:NR_163991
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000959836 CLINVAR
dbSNP (RS) rs142146558 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTH2R CLINVAR
OMIM 601469 CLINVAR