RGD:15137553 Rat Genome Database

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Variant: RGD:15137553 -  Homo sapiens

RGD ID: 15137553
RS ID: rs146515106
ClinVar ID: CV733248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SP110  SP140  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 231,077,608
GRCh38 2 230,212,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378447.1:c.451C>T
NM_001378443.1:c.451C>T
NM_001378445.1:c.469C>T
NP_001365376.1:p.Pro151Ser
More... 		10/01/2020 missense variant likely benign Hepatic Veno-occlusive Disease with Immunodeficiency; Hepatic venoocclusive disease with immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SP110
Accession:XM_011511092
Location:5UTRS;EXON

Gene Symbol:SP140
Accession:XM_047443073
Location:5UTRS;INTRON

Gene Symbol:SP140
Accession:XM_011510517
Location:5UTRS;INTRON

Gene Symbol:SP110
Accession:XM_024452850
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGEIIDGTSEMNEGKRS
QKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQK
NIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMT
LGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQ
LASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:NM_001378446
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPR
VFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLASDFGQVGLDLEAEFEKDLKDVLGFHEAN
DGGFWTLP*

Gene Symbol:SP110
Accession:NM_080424
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVPQ
KKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKD
DSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDC
HIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLKCEFLLLKAYCHPQSSFFTGIPFNIRDYGEPFQEA
MWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:NM_001185015
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKSGLLLCPPRINLKRELNSK*

Gene Symbol:SP110
Accession:NM_004510
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVPQ
KKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKD
DSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKSGLLLCPPRINLKRELNSK*

Gene Symbol:SP110
Accession:XM_017003968
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPR
VFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLVLQFAQEAGEQKRRAAWQQWSGAAGILLH
TLERDYLVQTPPHCSRALGYRIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLE
AEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:NM_001378442
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPR
VFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLVLQFAQEAGEQKRRAAWQQWSGAAGILLH
TLERDYLVQTPPHCSRALGYRIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLE
AEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:XM_017003969
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGEIIDGTSEMNEGKRS
QKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQK
NIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMT
LGELLKSGLLLCPPRINLKRELNSK*

Gene Symbol:SP110
Accession:NM_001378443
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVPQ
KKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKD
DSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDC
HIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLVLQFAQEAGEQKRRAAWQQWSGAAGILLHTLERDY
LVQTPPHCSRALGYRIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKD
LKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:XM_047444120
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVPQ
KKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKD
DSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDC
HIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWT
LP*

Gene Symbol:SP110
Accession:NM_001378445
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPR
VFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVA
WFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:NM_001378447
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGEIIDGTSEMNEGKRSQKTPST
PRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRG
KPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLK
SGLLLCPPRINLKRELNSK*

Gene Symbol:SP110
Accession:XM_011511091
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPR
VFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLKCEFLLLKAYCHPQSSFFTGIPFNASDFG
QVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:XM_011511090
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGEIIDGTSEMNEGKRS
QKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQK
NIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMT
LGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQ
LVLQFAQEAGEQKRRAAWQQWSGAAGILLHTLERDYLVQTPPHCSRALGYRIRDYGEPFQEAMWLDLVKERLITEMYTVA
WFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:NM_001378444
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGFRMFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLER
TFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAP
RVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRD
KEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKR
VDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDK
VTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGI
LYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPR
VFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLKCEFLLLKAYCHPQSSFFTGIPFNIRDYG
EPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:NM_004509
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVPQ
KKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKD
DSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDC
HIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDM
RLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP110
Accession:XM_047444121
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSL
LVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSTCAPRVSEPG
TSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGEIIDGTSEMNEGKRSQKTPST
PRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRG
KPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLK
RKNSDECEVCCQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLASDFG
QVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP*

Gene Symbol:SP140
Accession:NM_001005176
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443078
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510515
Location:INTRON

Gene Symbol:SP140
Accession:NM_001278451
Location:INTRON

Gene Symbol:SP140
Accession:NM_001278452
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246256
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443080
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510520
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443072
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003240
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443074
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443079
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510518
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443076
Location:INTRON

Gene Symbol:SP140
Accession:XM_006712223
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510516
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246254
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246255
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003248
Location:INTRON

Gene Symbol:SP140
Accession:XM_011510519
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003245
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003246
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003252
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003249
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003247
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246252
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003239
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003253
Location:INTRON

Gene Symbol:SP140
Accession:XM_005246253
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003250
Location:INTRON

Gene Symbol:SP140
Accession:NM_007237
Location:INTRON

Gene Symbol:SP140
Accession:NM_001278453
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003243
Location:INTRON

Gene Symbol:SP140
Accession:XM_017003242
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443077
Location:INTRON

Gene Symbol:SP140
Accession:XM_047443081
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000898823 CLINVAR
dbSNP (RS) rs146515106 CLINVAR
MedGen C1856128 CLINVAR
NCBI Gene SP110 CLINVAR
  SP140 CLINVAR
OMIM 235550 CLINVAR
  604457 CLINVAR
  608602 CLINVAR