RGD:405746310 Rat Genome Database

RGD:405746310 Rat Genome Database

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Variant: RGD:405746310 - Homo sapiens

RGD ID:

405746310

ClinVar ID:

CV3317783

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	158,541,514
GRCh38	6	158,120,482

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032861.4:c.1109C>G NG_032889.1:g.52799C>G NC_000006.12:g.158120482G>C NC_000006.11:g.158541514G>C More...	09/25/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3317783	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	SERAC1
Accession:	NM_032861
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	370

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTV SLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMR VIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRESVQEKYQDGVYVLHPQYRTSQPIKADVLFIH GLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS KDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRT LQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_006715586
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLE AVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYF TSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKD CPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRESVQEKYQDGVYVLHPQYRTSQ PIKADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKS IAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLL FPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPK KKDAFLYQRTLQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_011536198
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	300

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLE AVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYF TSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKD CPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRESVQEKYQDGVYVLHPQYRTSQ PIKADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKS IAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLL FPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPK KKDAFLYQRTLQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_024446573
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	370

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTV SLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMR VIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRESVQEKYQDGVYVLHPQYRTSQPIKADVLFIH GLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS KDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRT LQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_047419421
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	363

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQETKNVPGCLLRHLLQKNRNLYFPTKKWHTLERYQGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTVSLDKGEN HGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYR IIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQSLAAQKG GLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMRVIGNMAL NEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRESVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAF KTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGV GDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELSKDSPALK TLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREA LAKDLEN*

Gene Symbol:	SERAC1
Accession:	NR_073096
Location:	EXON;NON-CODING

Gene Symbol:	SERAC1
Accession:	XR_007059349
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004453114	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR