RGD:13834466 Rat Genome Database

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Variant: RGD:13834466 -  Homo sapiens

RGD ID: 13834466
RS ID: rs1562603622
ClinVar ID: CV585713
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 16,317,828
GRCh38 7 16,278,203
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.16278203C>T
NC_000007.13:g.16317828C>T
NP_001094896.1:p.Val287Ile
NM_001101417.4:c.709G>A
More... 		10/25/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001101417
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICIVMD
TEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVV
VVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLI
A*

Gene Symbol:CRPPA
Accession:NM_001368197
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQVTYKRDLYAAES
IIKERISQEICIVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLL
SMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIAS
LIKERNSGLIGQLLIA*

Gene Symbol:CRPPA
Accession:NM_001101426
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICIVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEAL
GHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKE
VKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000729997 CLINVAR
dbSNP (RS) rs1562603622 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ISPD CLINVAR
OMIM 614631 CLINVAR