RGD:12849830 Rat Genome Database

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Variant: RGD:12849830 -  Homo sapiens

RGD ID: 12849830
RS ID: rs372051069
ClinVar ID: CV369434
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGAT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 145,540,567
GRCh38 8 144,316,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034192.1:g.15016C>G
NC_000008.11:g.144316904G>C
NC_000008.10:g.145540567G>C
NP_036211.2:p.Ser420Arg
More... 		12/14/2016 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:DGAT1
Accession:NM_012079
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 420
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDS
GFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALT
EQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHT
VSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRII
ERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSK
WMARTGVFLASAFFHEYLVRVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLN
YEAPAAEA*

Gene Symbol:DGAT1
Accession:XM_011517356
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAELVGEAWCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLV
IAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSW
CRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQ
QWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNW
NIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVRVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAV
WLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA*

Gene Symbol:DGAT1
Accession:XM_047422387
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQHGQRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAA
NVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRR
ARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
VPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIP
VHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVRVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLS
LIIGQPIAVLMYVHDYYVLNYEAPAAEA*

Gene Symbol:DGAT1
Accession:XM_047422389
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLAT
ILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYY
FLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIW
LIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFF
HEYLVRVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA*

Gene Symbol:DGAT1
Accession:XM_047422388
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLAT
ILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYY
FLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIW
LIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFF
HEYLVRVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000436889 CLINVAR
dbSNP (RS) rs372051069 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DGAT1 CLINVAR
OMIM 604900 CLINVAR