RGD:597701255 Rat Genome Database

RGD:597701255 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:597701255 - Homo sapiens

RGD ID:

597701255

ClinVar ID:

CV3634251

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	28,119,643
GRCh38	6	28,151,865

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001278121.2:c.19C>A NM_001278122.2:c.19C>A NM_001278119.2:c.580C>A NM_006298.4:c.580C>A More...	11/15/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZKSCAN8
Accession:	XM_011514870
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFRLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	XM_047419315
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFRLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	NM_006298
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFRLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	NM_001278119
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFRLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	NM_001278122
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQKDLCRDNRPENFRNMFSLGGETRSENR ELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQERRHKCDECGKSFAQSSGLVRHWRIHTGE KPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIHTGEKPYQCNQCGKAFSQSAGLILHQRI HSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGHQRSHTGEKPYKCNECGRAFSQKSGLIE HQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSSLIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	NM_001278121
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQKDLCRDNRPENFRNMFSLGGETRSENR ELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQERRHKCDECGKSFAQSSGLVRHWRIHTGE KPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIHTGEKPYQCNQCGKAFSQSAGLILHQRI HSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGHQRSHTGEKPYKCNECGRAFSQKSGLIE HQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSSLIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	XM_011514874
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQKDLCRDNRPENFRNMFSLGGETRSENR ELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQERRHKCDECGKSFAQSSGLVRHWRIHTGE KPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIHTGEKPYQCNQCGKAFSQSAGLILHQRI HSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGHQRSHTGEKPYKCNECGRAFSQKSGLIE HQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSSLIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	XM_017011266
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFRLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSTTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004885711	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZKSCAN8	CLINVAR
OMIM	602240	CLINVAR