RGD:15119992 Rat Genome Database

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Variant: RGD:15119992 -  Homo sapiens

RGD ID: 15119992
RS ID: rs782508500
ClinVar ID: CV758472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 37,553,785
GRCh38 X 37,694,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021083.4:c.492C>T
NG_007473.3:g.13653C>T
NG_007473.2:g.13673C>T
NC_000023.11:g.37694532C>T
More... 		05/03/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XK
Accession:XM_011543978
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSRDRPLVLLLHLLQLGPL
FRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGKLITHRSAFSRASVIQAFLGSAPQLTLQLYISV
MQQDVTVGRNPVLVSEDKVVNKVGRPQSSSNRIYKHHTNY*

Gene Symbol:XK
Accession:NM_021083
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSRDRPLVLLLHLLQLGPL
FRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGKLITHRSAFSRASVIQAFLGSAPQLTLQLYISV
MQQDVTVGRSLLMTISLLSIVYGALRCNILAIKIKYDEYEVKVKPLAYVCIFLWRSFEIATRVVVLVLFTSVLKTWVVVI
ILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGTTIVLCFLTLLYTGINMFCWSAVQLKIDSPDLISKSHNWYQLLVY
YMIRFIENAILLLLWYLFKTDIYMYVCAPLLVLQLLIGYCTAILFMLVFYQFFHPCKKLFSSSVSEGFQRWLRCFCWACR
QQKPCEPIGKEDLQSSRDRDETPSSSKTSPEPGQFLNAEDLCSA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000918238 CLINVAR
dbSNP (RS) rs782508500 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene XK CLINVAR
OMIM 314850 CLINVAR