rs199575501 Rat Genome Database

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Variant: rs199575501 -  Homo sapiens

RGD ID: 15133932
RS ID: rs199575501
ClinVar ID: CV683565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT80  TRIM59-IFT80  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 160,037,593
GRCh38 3 160,319,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.160319805C>T
NR_148403.1:n.3423G>A
NP_001177171.1:p.Glu167=
NM_001190241.2:c.501G>A
More... 		01/15/2019 non-coding transcript variant likely benign|uncertain significance Chondroectodermal dysplasia-like syndrome; Infantile thoracic dystrophy; Jeune syndrome; Jeune's syndrome; Short-rib thoracic dysplasia; SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 2 WITH POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 2 WITHOUT POLYDACTYLY; Thoracic pelvic phalangeal dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT80
Accession:NM_001190241
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDS
YGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAH
VVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVS
LILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFL
SHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNT
VYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMW
ACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYN
WERALELAVKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
*

Gene Symbol:IFT80
Accession:NM_020800
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPIDFHWFPKSLGVKKQTQAESF
VLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSE
KVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPD
GELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVEQHWEWKNFQVTLTKRRAMQV
RNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYE
GRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIA
FIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYVDRDILPKTLYERDASEFSKN
PHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAI
GEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQ
KFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP*

Gene Symbol:IFT80
Accession:NM_001190242
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDS
YGRPLYNSQPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAH
VVEQHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGTVS
LILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFL
SHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNT
VYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSKWEDAVRLCRFVKEQTMW
ACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYN
WERALELAVKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP
*

Gene Symbol:TRIM59-IFT80
Accession:NR_148403
Location:EXON;NON-CODING

Gene Symbol:TRIM59-IFT80
Accession:NR_148402
Location:EXON;NON-CODING

Gene Symbol:TRIM59-IFT80
Accession:NR_148401
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000864045 CLINVAR
  RCV001145555 CLINVAR
dbSNP (RS) rs199575501 CLINVAR
MedGen C0265275 CLINVAR
  C1970005 CLINVAR
NCBI Gene 100174949 CLINVAR
  IFT80 CLINVAR
OMIM 611177 CLINVAR
  611263 CLINVAR
SNOMED CT 75049004 CLINVAR