RGD:12906603 Rat Genome Database

Variant: RGD:12906603 - Homo sapiens

RGD ID:

12906603

RS ID:

rs1085307991

ClinVar ID:

CV415105

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DDC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	50,611,713
GRCh38	7	50,544,015

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
NG_008742.1:g.26442T>C NC_000007.14:g.50544015A>G NC_000007.13:g.50611713A>G NP_001229817.2:p.Ile24Thr More...	05/14/2015	missense variant	likely pathogenic	none provided

Variant Details

Variant Transcripts

Gene Symbol:	DDC
Accession:	NM_001242886
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGAASPACTELETVM MDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERA GLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSA FICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFR SLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPC HLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:	DDC
Accession:	NM_001242890
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWSRQPV RMLRLKKTCLVSAVVRRS*

Gene Symbol:	DDC
Accession:	XM_047419932
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWGCCLGRGSNQPIRCVQSLGAGGSLEKGLAPACKPPVPPYLEAASPACTELETVMM DWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAG LIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAF ICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRS LKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCH LRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:	DDC
Accession:	NM_001242889
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQMVATLGTTTCCSFDN LLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYL KHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRL KGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:	DDC
Accession:	NM_001082971
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE *

Gene Symbol:	DDC
Accession:	NM_001242888
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGGSASEATLVALLA ARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFF MVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKK RTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRF EICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAE RE*

Gene Symbol:	DDC
Accession:	XM_005271745
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGAASPACTELETVM MDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERA GLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSA FICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFR SLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPC HLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:	DDC
Accession:	XM_047419931
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE *

Gene Symbol:	DDC
Accession:	NM_000790
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE *

Gene Symbol:	DDC
Accession:	NM_001242887
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	24

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGTEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR TKVIHRLQAASPELTQAAIMEKLVAYSSDQMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLL NGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRM YGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRF AICSRTVESAHVQRAWEHIKELAADVLRAERE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000489419	CLINVAR
dbSNP (RS)	rs1085307991	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	DDC	CLINVAR
OMIM	107930	CLINVAR

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

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

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Variant: RGD:12906603 - Homo sapiens