RGD:15120914 Rat Genome Database

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Variant: RGD:15120914 -  Homo sapiens

RGD ID: 15120914
RS ID: rs766171114
ClinVar ID: CV750032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 32,821,327
GRCh38 6 32,853,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_166t1:c.87T>C
NM_000593.6:c.87T>C
LRG_166p1:p.Leu29=
NP_000584.3:p.Leu29=
More... 		09/11/2019 synonymous variant likely benign Bare lymphocyte syndrome type 1; BARE LYMPHOCYTE SYNDROME, TYPE I; BLS, TYPE I; HLA CLASS I DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TAP1
Accession:NM_000593
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATV
GSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSL
WVPGGQGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIM
LWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLAKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTL
NQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFE
YLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGG
QLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIAYGLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTEVDEAG
SQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQVEQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAI
REGGTHQQLMEKKGCYWAMVQAPADAPE*

Gene Symbol:TAP1
Accession:NM_001292022
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000918394 CLINVAR
dbSNP (RS) rs766171114 CLINVAR
MedGen C1858266 CLINVAR
NCBI Gene TAP1 CLINVAR
OMIM 170260 CLINVAR
  604571 CLINVAR