rs2127949515 Rat Genome Database

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Variant: rs2127949515 -  Homo sapiens

RGD ID: 152073820
RS ID: rs2127949515
ClinVar ID: CV1570266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKBP14  FKBP14-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 30,062,305
GRCh38 7 30,022,689
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017946.4:c.325C>T
LRG_454:g.9113C>T
NG_032173.1:g.9113C>T
NC_000007.14:g.30022689G>A
More... 		11/22/2022 non-coding transcript variant likely benign Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FKBP14
Accession:XM_047420550
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEN
YLQHTPVEECSSRFRRKKKNDSSSQPWWLTPVISTLPEAKEGGSLELRSLRPAWAT*

Gene Symbol:FKBP14
Accession:NM_017946
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEV
KAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL*

Gene Symbol:FKBP14
Accession:NR_046478
Location:EXON;NON-CODING

Gene Symbol:FKBP14-AS1
Accession:NR_187577
Location:INTRON;NON-CODING

Gene Symbol:FKBP14
Accession:NR_046479
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002210328 CLINVAR
dbSNP (RS) rs2127949515 CLINVAR
MedGen C3281160 CLINVAR
NCBI Gene FKBP14 CLINVAR
  FKBP14-AS1 CLINVAR
OMIM 614505 CLINVAR
  614557 CLINVAR