RGD:127309377 Rat Genome Database

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Variant: RGD:127309377 -  Homo sapiens

RGD ID: 127309377
RS ID: rs907835399
ClinVar ID: CV1113851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: P3H2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 189,838,281
GRCh38 3 190,120,492
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001134418.2:c.-64+1711C>T
NM_018192.4:c.240C>T
NG_031929.1:g.6946C>T
NC_000003.12:g.190120492G>A
More... 		08/28/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:P3H2
Accession:NM_001134418
Location:5UTRS;INTRON

Gene Symbol:P3H2
Accession:NM_018192
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDYERAVRDLEAALRSHRRLREI
RTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCYRSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIK
LNQLEKAVEAAHTFFVANPEHMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREY
FVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLSPIENFLPLHYDYLQFAYYRVG
EYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWI
RYGGRQDENRVPSGVNVEGAEVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELH
SVASGIMLVGDGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMV
CRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGR
MISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001456286 CLINVAR
dbSNP (RS) rs907835399 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene P3H2 CLINVAR
OMIM 610341 CLINVAR