RGD:156105376 Rat Genome Database

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Variant: RGD:156105376 -  Homo sapiens

RGD ID: 156105376
ClinVar ID: CV2400363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZKSCAN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 99,627,893
GRCh38 7 100,030,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287055.3:c.55A>G
NM_001287054.3:c.586A>G
NM_001346580.2:c.586A>G
NM_001346579.2:c.694A>G
More... 		09/16/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZKSCAN1
Accession:NM_001287054
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKELCHQWLRPEINTKEQILELLVLEQFLSILPKELQVWL
QEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPLDPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALP
AAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEEWGCQNLARRNLSRDNRQENYGSAFPQGGENRNENEE
STSKAETSEDSASRGETTGRSQKEFGEKRDQEGKTGERQQKNPEEKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGR
SFSLSSNFTTPEEVPTGTKSHRCDECGKCFTRSSSLIRHKIIHTGEKPYECSECGKAFSLNSNLVLHQRIHTGEKPHECN
ECGKAFSHSSNLILHQRIHSGEKPYECNECGKAFSQSSDLTKHQRIHTGEKPYECSECGKAFNRNSYLILHRRIHTREKP
YKCTKCGKAFTRSSTLTLHHRIHARERASEYSPASLDAFGAFLKSCV*

Gene Symbol:ZKSCAN1
Accession:NM_001346581
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKEL
CHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPL
DPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQGGENRNENEESTSKAETSEDSASRGETTGRSQKEFGEKRDQEGKTGERQQKNPE
EKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGRSFSLSSNFTTPEEVPTGTKSHRCDECGKCFTRSSSLIRHKIIHT
GEKPYECSECGKAFSLNSNLVLHQRIHTGEKPHECNECGKAFSHSSNLILHQRIHSGEKPYECNECGKAFSQSSDLTKHQ
RIHTGEKPYECSECGKAFNRNSYLILHRRIHTREKPYKCTKCGKAFTRSSTLTLHHRIHARERASEYSPASLDAFGAFLK
SCV*

Gene Symbol:ZKSCAN1
Accession:XM_047420803
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKEL
CHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPL
DPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQGGENRNENEESTSKAETSEDSASRGETTGRSQKEFGEKRDQEGKTGERQQKNPE
EKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGRSFSLSSNFTTPEEVPTGTKSHRCDECGKCFTRSSSLIRHKIIHT
GEKPYECSECGKAFSLNSNLVLHQRIHTGEKPHECNECGKAFSHSSNLILHQRIHSGEKPYECNECGKAFSQSSDLTKHQ
RIHTGEKPYECSECGKAFNRNSYLILHRRIHTREKPYKCTKCGKAFTRSSTLTLHHRIHARERASEYSPASLDAFGAFLK
SCV*

Gene Symbol:ZKSCAN1
Accession:NM_001287055
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASALFTADSQAMVKIEDVAVSLILEEWGCQNLARRNLSRDNRQENYGSAFPQGGENRNENEESTSKAETSEDSASRGET
TGRSQKEFGEKRDQEGKTGERQQKNPEEKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGRSFSLSSNFTTPEEVPTG
TKSHRCDECGKCFTRSSSLIRHKIIHTGEKPYECSECGKAFSLNSNLVLHQRIHTGEKPHECNECGKAFSHSSNLILHQR
IHSGEKPYECNECGKAFSQSSDLTKHQRIHTGEKPYECSECGKAFNRNSYLILHRRIHTREKPYKCTKCGKAFTRSSTLT
LHHRIHARERASEYSPASLDAFGAFLKSCV*

Gene Symbol:ZKSCAN1
Accession:NM_003439
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKEL
CHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPL
DPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQGGENRNENEESTSKAETSEDSASRGETTGRSQKEFGEKRDQEGKTGERQQKNPE
EKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGRSFSLSSNFTTPEEVPTGTKSHRCDECGKCFTRSSSLIRHKIIHT
GEKPYECSECGKAFSLNSNLVLHQRIHTGEKPHECNECGKAFSHSSNLILHQRIHSGEKPYECNECGKAFSQSSDLTKHQ
RIHTGEKPYECSECGKAFNRNSYLILHRRIHTREKPYKCTKCGKAFTRSSTLTLHHRIHARERASEYSPASLDAFGAFLK
SCV*

Gene Symbol:ZKSCAN1
Accession:XM_047420805
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKEL
CHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPL
DPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQV*

Gene Symbol:ZKSCAN1
Accession:NM_001346580
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKELCHQWLRPEINTKEQILELLVLEQFLSILPKELQVWL
QEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPLDPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALP
AAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEEWGCQNLARRNLSRDNRQENYGSAFPQGGENRNENEE
STSKAETSEDSASRGETTGRSQKEFGEKRDQEGKTGERQQKNPEEKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGR
SFSLSSNFTTPEEVPTGTKSHRCDECGKCFTRSSSLIRHKIIHTGEKPYECSECGKAFSLNSNLVLHQRIHTGEKPHECN
ECGKAFSHSSNLILHQRIHSGEKPYECNECGKAFSQSSDLTKHQRIHTGEKPYECSECGKAFNRNSYLILHRRIHTREKP
YKCTKCGKAFTRSSTLTLHHRIHARERASEYSPASLDAFGAFLKSCV*

Gene Symbol:ZKSCAN1
Accession:NM_001346579
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKEL
CHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPL
DPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQANVFAAFQHAAHVFCFLEEKGHVRSCHAPEACPACSKGSHGLVTLCWPADGSKN
R*

Gene Symbol:ZKSCAN1
Accession:XM_047420804
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFRRFCYQNTFGPREALSRLKEL
CHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYRPDSGEEAVTLLEDLELDLSGQQVPGQVHGPEMLARGMVPL
DPVQESSSFDLHHEATQSHFKHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDVAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQGKTDAGLLSDKMVLSLCVLAVGSLMCSIEC*

Gene Symbol:ZKSCAN1
Accession:NR_144477
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004244415 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZKSCAN1 CLINVAR
OMIM 601260 CLINVAR