RGD:14733165 Rat Genome Database

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Variant: RGD:14733165 -  Homo sapiens

RGD ID: 14733165
RS ID: rs1198262227
ClinVar ID: CV634824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 32,816,538
GRCh38 6 32,848,761
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_166t1:c.1457C>T
NM_001292022.2:c.854C>T
LRG_1328:g.1175C>T
NG_011759.1:g.10211C>T
More... 		11/26/2018 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: P to L (nonsynonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAVLEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQT
GNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLA
KSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSS
GNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFEYLDRTLRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVL
QGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIAY
GLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTEVDEAGSQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQV
EQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAIREGGTHQQLMEKKGCYWAMVQAPADAPE*

Gene Symbol:TAP1
Accession:NM_000593
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 486
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATV
GSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSL
WVPGGQGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIM
LWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESLAKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTL
NQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFE
YLDRTLRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGG
QLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIAYGLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTEVDEAG
SQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQVEQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAI
REGGTHQQLMEKKGCYWAMVQAPADAPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000802172 CLINVAR
dbSNP (RS) rs1198262227 CLINVAR
MedGen C1858266 CLINVAR
NCBI Gene TAP1 CLINVAR
OMIM 170260 CLINVAR
  604571 CLINVAR