rs201875716 Rat Genome Database

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Variant: rs201875716 -  Homo sapiens

RGD ID: 10411403
RS ID: rs201875716
ClinVar ID: CV212037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAS2  LOC108663984  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 55,051,265
GRCh38 X 55,024,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008983.1:g.11233T>C
NC_000023.11:g.55024832A>G
NC_000023.10:g.55051265A>G
NP_000023.2:p.Ser64Pro
More... 		05/30/2023 missense variant likely benign|uncertain significance ALAS2-related condition; AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALAS2
Accession:NM_001037967
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGGDSPPWAKGHCPFMLSELQDG
KSKIVQKAAPEVQEDVKAFKTGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQHFSEASVASKDVSVWCSN
DYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCE
IYSDAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVD
EVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRL
LKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLR
LAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA*

Gene Symbol:ALAS2
Accession:NM_001037968
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGGEVALGWNKKKRLFCEDFRFKMVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKAT
KAGGDSPPWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWAD
AYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELEQELAELHQKDSAL
LFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSM
DGAICPLEELCDVSHQYGALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSY
AAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLCDLL
LSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRRPVHFELMSEWERS
YFGNMGPQYVTTYA*

Gene Symbol:ALAS2
Accession:NM_000032
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGGDSPPWAKGHCPFMLSELQDG
KSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDH
TYRVFKTVNRWADAYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPK
IPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYI
ASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRR
PVHFELMSEWERSYFGNMGPQYVTTYA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000200185 CLINVAR
  RCV001468023 CLINVAR
  RCV002515380 CLINVAR
  RCV003967515 CLINVAR
dbSNP (RS) rs201875716 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 108663984 CLINVAR
  ALAS2 CLINVAR
OMIM 301300 CLINVAR