RGD:21068842 Rat Genome Database

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Variant: RGD:21068842 -  Homo sapiens

RGD ID: 21068842
RS ID: rs757074790
ClinVar ID: CV788951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 22,002,470
GRCh38 X 21,984,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258423.2:c.640G>A
NG_009228.1:g.48629G>A
NC_000023.11:g.21984352G>A
NP_001245352.1:p.Gly214Arg
More... 		08/25/2019 missense variant uncertain significance INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; Snyder Robinson syndrome; SNYDER-ROBINSON MENTAL RETARDATION SYNDROME; Spermine synthase deficiency; X-linked mental retardation Snyder - Robinson type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMS
Accession:NM_004595
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDA
QGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGN
ILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDV
LDNLKGDCYQVLIEDCIPVLKRYAKERREFDYVINDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVN
LTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP*

Gene Symbol:SMS
Accession:XM_005274582
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPI
VRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDV
LILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKERREFDYVI
NDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP*

Gene Symbol:SMS
Accession:XM_011545568
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPI
VRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDV
LILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKERREFDYVI
NDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP*

Gene Symbol:SMS
Accession:NM_001258423
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGRLPPIVRGGAIDRYWPTADGRLVE
YDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKP
KMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKERREFDYVINDLTAVPISTSPEEDSTWE
FLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000985012 CLINVAR
dbSNP (RS) rs757074790 CLINVAR
MedGen C0796160 CLINVAR
NCBI Gene SMS CLINVAR
OMIM 300105 CLINVAR
  309583 CLINVAR