RGD:8634607 Rat Genome Database

RGD:8634607 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Variant: RGD:8634607 - Homo sapiens

RGD ID:

8634607

ClinVar ID:

CV89827

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	18,837,071
GRCh38	12	18,684,137

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000012.12:g.18684137C>T NC_000012.11:g.18837071C>T NM_033123.3:c.1734G>A NM_033123.2:c.1734G>A More...		missense\|missense variant\|non-coding transcript variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	PLCZ1
Accession:	NM_001330769
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	385

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLL SDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLV IYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVAL NFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVF GVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGE SLEPASLFVYVWYVR*

Gene Symbol:	PLCZ1
Accession:	XM_017020182
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	431

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNLQATF GESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGKVEEWEEEVADGEEEEEEEEEEEEEEEDKFK ESEVLESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKL SKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRES KSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVP ELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVCFTEHQPGHSHSVP*

Gene Symbol:	PLCZ1
Accession:	NM_033123
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	578

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTY SENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHP LNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTS DYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQ DKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTR KFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGM PITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQG LIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVWYVR*

Gene Symbol:	PLCZ1
Accession:	XM_024449255
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	385

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLL SDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLV IYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVAL NFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVF GVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGE SLEPASLFVYVWYVR*

Gene Symbol:	PLCZ1
Accession:	XM_047429828
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGKVEEWEEEVADGEEEEEEEEEE EEEEEDKFKESEVLESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNS IGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYI LKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNE TFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVCFTEHQPGHSHSVP *

Gene Symbol:	PLCZ1
Accession:	XM_017020176
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	619

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTY SENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHP LNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTS DYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGKVE EWEEEVADGEEEEEEEEEEEEEEEDKFKESEVLESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAE KFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPG LPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQ MKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPAS LFVYVCFTEHQPGHSHSVP*

Gene Symbol:	PLCZ1
Accession:	XM_017020177
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	578

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTY SENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHP LNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTS DYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQ DKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTR KFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGM PITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQG LIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVCFTEHQPGHSHSVP*

Gene Symbol:	PLCZ1
Accession:	XM_017020178
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	569

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTY SENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHP LNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMAL KFKILVKNKKIGTLKETHERKGSDKRGKVEEWEEEVADGEEEEEEEEEEEEEEEDKFKESEVLESVLGDNQDKETGVKKL PGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPK ATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLI SGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLG QYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVCFTEHQPGHSHSVP*

Gene Symbol:	PLCZ1
Accession:	XM_017020183
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	426

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLL SDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGKVEEWEEEVADGEEEEEEEEEEEEEEEDKFKESEVL ESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRV HEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFN PSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALI RFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVCFTEHQPGHSHSVP*

Gene Symbol:	PLCZ1
Accession:	NM_001330774
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	474

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHPLNDYFISSSHNTYLVSDQLLGPSD LWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNL QATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLK IALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFW NIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKG DSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRR IPLFSRMGESLEPASLFVYVWYVR*

Gene Symbol:	PLCZ1
Accession:	XM_017020184
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	382

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRG KVEEWEEEVADGEEEEEEEEEEEEEEEDKFKESEVLESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYT KAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQ TPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVP NDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLE PASLFVYVCFTEHQPGHSHSVP*

Gene Symbol:	PLCZ1
Accession:	XM_017020185
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGKVEEWEEEVADGEEEEEEEEEE EEEEEDKFKESEVLESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNS IGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYI LKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNE TFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVCFTEHQPGHSHSVP *

Gene Symbol:	PLCZ1
Accession:	XM_024449254
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	431

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNLQATF GESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGKVEEWEEEVADGEEEEEEEEEEEEEEEDKFK ESEVLESVLGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKL SKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRES KSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVP ELALIRFVVEGQGLIAGNEFLGQYTLPLLCINKGYRRIPLFSRMGESLEPASLFVYVWYVR*

Gene Symbol:	PLCZ1
Accession:	XR_001748912
Location:	EXON;NON-CODING

Gene Symbol:	PIK3C2G
Accession:	NM_001288774
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_017019475
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_011520697
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_047429006
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_017019473
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_047429005
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	NM_004570
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_047429007
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_011520701
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_017019471
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	NM_001288772
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_017019478
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_017019479
Location:	INTRON

Gene Symbol:	PLCZ1
Accession:	XM_047429827
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_047429009
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_047429008
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XM_047429010
Location:	INTRON

Gene Symbol:	PIK3C2G
Accession:	XR_931307
Location:	INTRON;NON-CODING

Variant Samples