RGD:11549321 Rat Genome Database

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Variant: RGD:11549321 -  Homo sapiens

RGD ID: 11549321
RS ID: rs745590895
ClinVar ID: CV251815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 149,360,917
GRCh38 5 149,981,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000112.3:c.1761C>T
LRG_684t1:c.1761C>T
LRG_684:g.22472C>T
NG_007147.2:g.22472C>T
More... 		02/14/2019 synonymous variant benign|likely benign|uncertain significance Achondrogenesis Fraccaro type; AllHighlyPenetrant; Atelosteogenesis type 2; Atelosteogenesis type II; Diastrophic dwarfism; Diastrophic dysplasia; DTDST-related dysplasias; Multiple epiphyseal dysplasia type 4; Multiple epiphyseal dysplasia with bilayered patellae; Multiple epiphyseal dysplasia with clubfoot; Multiple epiphyseal dysplasia with double-layered patella; Multiple epiphyseal dysplasia, autosomal recessive; Multiple Epiphyseal Dysplasia, Recessive; Neonatal osseous dysplasia 1; NEONATAL OSSEOUS DYSPLASIA I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC26A2
Accession:NM_000112
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 587
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQC
SPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHI
SVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQ
VGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKE
LNEHFKSKLKAPIPIELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSL
SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQK
SVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLS
HDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAE
VSKNQKGVCVPNGLSLSSD*

Gene Symbol:SLC26A2
Accession:XM_017009191
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 587
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQC
SPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHI
SVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQ
VGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKE
LNEHFKSKLKAPIPIELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSL
SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQK
SVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLS
HDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAE
VSKNQKGVCVPNGLSLSSD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000250262 CLINVAR
  RCV000933853 CLINVAR
  RCV001157069 CLINVAR
  RCV001157070 CLINVAR
  RCV001157071 CLINVAR
  RCV001157072 CLINVAR
  RCV001157073 CLINVAR
dbSNP (RS) rs745590895 CLINVAR
MedGen C0220726 CLINVAR
  C0265274 CLINVAR
  C1847593 CLINVAR
  C1850554 CLINVAR
  CN120497 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC26A2 CLINVAR
OMIM 222600 CLINVAR
  226900 CLINVAR
  256050 CLINVAR
  600972 CLINVAR
  606718 CLINVAR
SNOMED CT 14870002 CLINVAR
  58561002 CLINVAR