RGD:15189629 Rat Genome Database

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Variant: RGD:15189629 -  Homo sapiens

RGD ID: 15189629
RS ID: rs192489584
ClinVar ID: CV766795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTI2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 33,369,856
GRCh38 8 33,512,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001102401.4:c.276T>C
NM_001265581.2:c.276T>C
NM_001330505.3:c.276T>C
NM_025115.5:c.276T>C
More... 		10/02/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TTI2
Accession:NM_001102401
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE
TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE
QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP
ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEE
EARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI
PQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:TTI2
Accession:NM_001330505
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE
TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE
QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHME
PEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKA
LLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:TTI2
Accession:NM_001265581
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE
TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE
QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP
ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEE
EARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI
PQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:TTI2
Accession:XM_047422266
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE
TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE
QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHME
PEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKA
LLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:TTI2
Accession:NM_025115
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE
TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE
QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP
ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEE
EARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI
PQSCEDRKVVNYIRKVQQVSEGAPYNGT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000932293 CLINVAR
dbSNP (RS) rs192489584 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TTI2 CLINVAR
OMIM 614426 CLINVAR