RGD:13837171 Rat Genome Database

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Variant: RGD:13837171 -  Homo sapiens

RGD ID: 13837171
RS ID: rs1364759577
ClinVar ID: CV588457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 16,415,733
GRCh38 7 16,376,108
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.16376108T>C
NC_000007.13:g.16415733T>C
NP_001094896.1:p.Tyr223Cys
NM_001101426.4:c.668A>G
More... 		06/01/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001368197
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVICEAYQQVTYKRDLYAAES
IIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLL
SMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIAS
LIKERNSGLIGQLLIA*

Gene Symbol:CRPPA
Accession:NM_001101426
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVICEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEAL
GHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKE
VKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA*

Gene Symbol:CRPPA
Accession:NR_160656
Location:EXON;NON-CODING

Gene Symbol:CRPPA
Accession:NM_001101417
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000733502 CLINVAR
dbSNP (RS) rs1364759577 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ISPD CLINVAR
OMIM 614631 CLINVAR