rs9745522 Rat Genome Database

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Variant: rs9745522 -  Homo sapiens

RGD ID: 10050104
RS ID: rs9745522
ClinVar ID: CV191421
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG1  EEF2KMT  LOC127883023  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 5,134,774
GRCh38 16 5,084,773
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_201400.4:c.*859A>T
NG_009202.1:g.17965T>A
NC_000016.10:g.5084773T>A
NC_000016.9:g.5134774T>A
More... 		03/16/2018 3 prime utr variant|missense variant benign ALG1-CDG; AllHighlyPenetrant; CDG 1K; CDG Ik; Congenital disorder of glycosylation type 1K; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:NM_201598
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:NM_201400
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_005255157
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_005255158
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_011522404
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:3UTRS;EXON

Gene Symbol:ALG1
Accession:XM_017023457
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQN
NRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYG
YSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEFEQLTLDGHNLPSLVCVITGKGPLREYYSRLI
HQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDS
EELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT*

Gene Symbol:ALG1
Accession:NM_019109
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 429
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQN
NRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYG
YSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVIT
GKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHEL
VKHEENGLVFEDSEELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT*

Gene Symbol:ALG1
Accession:NM_001330504
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHL
NLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVT
RLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAE
DYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQLQMLFSNFPDPA
GKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT*

Gene Symbol:ALG1
Accession:XR_007064892
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000174584 CLINVAR
  RCV001517514 CLINVAR
  RCV004715751 CLINVAR
dbSNP (RS) rs9745522 CLINVAR
MedGen C2931005 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALG1 CLINVAR
  EEF2KMT CLINVAR
OMIM 605907 CLINVAR
  608540 CLINVAR
  615263 CLINVAR