RGD:11586737 Rat Genome Database

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Variant: RGD:11586737 -  Homo sapiens

RGD ID: 11586737
RS ID: rs34044544
ClinVar ID: CV297102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC34A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 176,824,007
GRCh38 5 177,397,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016223.1:g.17576G>A
NC_000005.10:g.177397006G>A
NC_000005.9:g.176824007G>A
NP_003043.3:p.Gly450Ser
More... 		07/31/2021 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVLERHEPLPAKLAL
EEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLV
QSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAA
TGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHSLIQIWCHPDSLQAPTSMSRA
EANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWV
TGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNISTTTTAILAALASPREKLSSAFQVAHSGGSQ
PLCCEDTHAALQRSPCREKGKHPADSQCQLDSHMNKLPWKWILQPSLTFGLQSYERPQGKTDHQKL*

Gene Symbol:SLC34A1
Accession:NM_003052
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVLERHEPLPAKLAL
EEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLV
QSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAA
TGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHSLIQIWCHPDSLQAPTSMSRA
EANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWV
TGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNISTTTTAILAALASPREKLSSAFQIALCHFFF
NISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINV
LQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFLEELPPATPSPRLALPAHHNATRL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAP
FTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNISTTTTAILAALASPREKLSSAFQIALC
HFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVV
LINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFLEELPPATPSPRLALPAHHNA
TRL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVLERHEPLPAKLAL
EEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLV
QSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAA
TGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHSLIQIWCHPDSLQAPTSMSRA
EANSSQTLGNATMEKYFPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNISTTTTAI
LAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMA
GWQVMVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFL
EELPPATPSPRLALPAHHNATRL*

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC34A1
Accession:NM_001167579
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000290137 CLINVAR
  RCV000414507 CLINVAR
  RCV001808776 CLINVAR
dbSNP (RS) rs34044544 CLINVAR
MedGen C2676786 CLINVAR
  C3150652 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC34A1 CLINVAR
OMIM 182309 CLINVAR
  612286 CLINVAR
  613388 CLINVAR