rs1684402630 Rat Genome Database

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Variant: rs1684402630 -  Homo sapiens

RGD ID: 28889556
RS ID: rs1684402630
ClinVar ID: CV885694
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129934333  TMEM127  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 96,931,233
GRCh38 2 96,265,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017849.4:c.-114C>T
LRG_528:g.5519C>T
NG_027695.1:g.5519C>T
NC_000002.12:g.96265495G>A
More... 		01/13/2018 5 prime utr variant uncertain significance Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Medullary paraganglioma
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TMEM127
Accession:NM_017849
Location:5UTRS;EXON

Gene Symbol:TMEM127
Accession:NM_001193304
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:TMEM127
Accession:NM_001407283
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TMEM127
Accession:NM_001407282
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138742 CLINVAR
dbSNP (RS) rs1684402630 CLINVAR
MedGen C0031511 CLINVAR
NCBI Gene LOC129934333 CLINVAR
  TMEM127 CLINVAR
OMIM 171300 CLINVAR
  613403 CLINVAR