RGD:26890970 Rat Genome Database

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Variant: RGD:26890970 -  Homo sapiens

RGD ID: 26890970
RS ID: rs1770512743
ClinVar ID: CV831817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 32,815,355
GRCh38 6 32,847,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001292022.2:c.1235C>T
LRG_1328:g.2358C>T
NG_011759.1:g.11394C>T
NG_028165.1:g.2358C>T
More... 		11/27/2019 missense variant uncertain significance 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_001292022
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAVLEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQT
GNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLA
KSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSS
GNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFEYLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVL
QGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIAY
GLTQKPTMEEIIAAAVKSGAHSFISGLPQGYDTEVDEAGSQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQV
EQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAIREGGTHQQLMEKKGCYWAMVQAPADAPE*

Gene Symbol:TAP1
Accession:NM_000593
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 613
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATV
GSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSL
WVPGGQGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIM
LWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLAKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTL
NQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFE
YLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGG
QLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIAYGLTQKPTMEEIIAAAVKSGAHSFISGLPQGYDTEVDEAG
SQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQVEQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAI
REGGTHQQLMEKKGCYWAMVQAPADAPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001046240 CLINVAR
dbSNP (RS) rs1770512743 CLINVAR
MedGen C1858266 CLINVAR
NCBI Gene TAP1 CLINVAR
OMIM 170260 CLINVAR
  604571 CLINVAR