RGD:8621565 Rat Genome Database

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Variant: RGD:8621565 -  Homo sapiens

RGD ID: 8621565
RS ID: rs387907542
ClinVar ID: CV75539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 142,622,780
GRCh38 7 142,925,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046912.1:g.13039C>T
NC_000007.14:g.142925685G>A
NC_000007.13:g.142622780G>A
NM_019841.4:c.966C>T
More... 		synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TRPV5
Accession:NM_019841
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGFLPKAEGPGSQLQKLLPSFLVREQDWDQHLDKLHMLQQKRILESPLLRASKENDLSVLRQLLLDCTCDVRQRGALGE
TALHIAALYDNLEAALVLMEAAPELVFEPTTCEAFAGQTALHIAVVNQNVNLVRALLTRRASVSARATGTAFRHSPRNLI
YFGEHPLSFAACVNSEEIVRLLIEHGADIRAQDSLGNTVLHILILQPNKTFACQMYNLLLSYDGHGDHLQPLDLVPNHQG
LTPFKLAGVEGNTVMFQHLMQKRRHIQWTYGPLTSILYDLTEIDSWGEELSFLELVVSSDKREARQILEQTPVKELVSFK
WNKYGRPYFCILAALYLLYMICFTTCCVYRPLKFRGGNRTHSRDITILQQKLLQEAYETREDIIRLVGELVSIVGAVIIL
LLEIPDIFRVGASRYFGKTILGGPFHVIIITYASLVLVTMVMRLTNTNGEVVPMSFALVLGWCSVMYFTRGFQMLGPFTI
MIQKMIFGDLMRFCWLMAVVILGFASAFYIIFQTEDPTSLGQFYDYPMALFTTFELFLTVIDAPANYDVDLPFMFSIVNF
AFTIIATLLMLNLFIAMMGDTHWRVAQERDELWRAQVVATTVMLERKLPRCLWPRSGICGCEFGLGDRWFLRVENHNDQN
PLRVLRYVEVFKNSDKEDDQEHPSEKQPSGAESGTLARASLALPTSSLSRTASQSSSHRGWEILRQNTLGHLNLGLNLSE
GDGEEVYHF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000054761 CLINVAR
dbSNP (RS) rs387907542 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TRPV5 CLINVAR
OMIM 606679 CLINVAR