RGD:15151683 Rat Genome Database

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Variant: RGD:15151683 -  Homo sapiens

RGD ID: 15151683
RS ID: rs1286428662
ClinVar ID: CV689384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A8  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 152,960,260
GRCh38 X 153,694,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142806.1:c.1338C>A
NM_001142805.2:c.1653C>A
NM_005629.4:c.1683C>A
NG_012016.2:g.11509C>A
More... 		11/05/2018 synonymous variant likely benign CEREBRAL CREATINE DEFICIENCY SYNDROME 1; Creatine deficiency, X-linked; CREATINE TRANSPORTER DEFECT; Mental retardation , X-linked with seizures, short stature and midface hypoplasia; Mental retardation , X-linked, with creatine transport deficiency; SLC6A8-Related Creatine Transporter Deficiency; X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A8
Accession:NM_001142806
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASL
ANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVL
LVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFA
GFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPA
SYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRP
CPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLT
QPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM*

Gene Symbol:SLC6A8
Accession:NM_001142805
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 551
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPY
LCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLV
KSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIG
LGALTALGSYNRFNNNCYNGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFML
LLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE
CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFALSSML
CVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM*

Gene Symbol:SLC6A8
Accession:NM_005629
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 561
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPY
LCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLV
KSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIG
LGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAP
LWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASG
TTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAM
GWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001461192 CLINVAR
  RCV002409050 CLINVAR
dbSNP (RS) rs1286428662 CLINVAR
MedGen C0950123 CLINVAR
  C1845862 CLINVAR
NCBI Gene SLC6A8 CLINVAR
OMIM 300036 CLINVAR
  300352 CLINVAR