RGD:8598525 Rat Genome Database

RGD ID:

8598525

RS ID:

rs137853165

ClinVar ID:

CV25591

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

STS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	7,243,397
GRCh38	X	7,325,356

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000023.11:g.7325356T>A NC_000023.10:g.7243397T>A NG_021472.2:g.183105T>A NM_001320754.2:c.1099T>A More...	11/03/2008	missense\|missense variant	pathogenic	Ichthyosis, X-Linked; Placental steroid sulfatase deficiency; Recessive X-linked ichthyosis; Steroid sulfatase deficiency; Steroid sulfatase deficiency disease; STS DEFICIENCY

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	STS
Accession:	NM_001320753
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTG RYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLT NLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMM RNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNL LDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFP TVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATH VCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPS TGLSCQCDREKQDKRLSR*

Gene Symbol:	STS
Accession:	NM_000351
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTG RYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLT NLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMM RNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNL LDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFP TVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATH VCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPS TGLSCQCDREKQDKRLSR*

Gene Symbol:	STS
Accession:	NM_001320751
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQDRLQLFIAKMKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASP LCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLH HGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGF LHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVE EMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQK IDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNF NPVGSNGCFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNF LWKPWLQLCCPSTGLSCQCDREKQDKRLSR*

Gene Symbol:	STS
Accession:	NM_001320754
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTG RYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLT NLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMM RNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNL LDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFP TVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATH VCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPS TGLSCQCDREKQDKRLSR*

Gene Symbol:	STS
Accession:	NM_001320750
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQDRLQLFIAKMKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASP LCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLH HGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGF LHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVE EMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQK IDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNF NPVGSNGCFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNF LWKPWLQLCCPSTGLSCQCDREKQDKRLSR*

Gene Symbol:	STS
Accession:	XM_047442107
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTG RYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLT NLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMM RNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNL LDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFP TVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATH VCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPS TGLSCQCDREKQDKRLSR*

Gene Symbol:	STS
Accession:	NM_001320752
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTG RYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLT NLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMM RNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNL LDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNREGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFP TVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATH VCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPS TGLSCQCDREKQDKRLSR*

Variant Samples

Additional References at PubMed

PMID:1539590	PMID:2668275	PMID:3032454	PMID:9252398

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Send us a Message