Product Details

SNP ID
rs201613280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:28995780 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTTGGGAAGGTAGTTTATCCAA[A/C]ATAAGGATCCCATCCTTTTCCATAA
Phenotype
MIM: 609780
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CPVL PubMed Links

Gene Details

Gene
CPVL
Gene Name
carboxypeptidase, vitellogenic like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019029.2 1269 Missense Mutation GTT,TTT V475F NP_061902.2
NM_031311.3 1269 Missense Mutation GTT,TTT V475F NP_112601.3
XM_011515437.1 1269 Missense Mutation GTT,TTT V475F XP_011513739.1
XM_017012366.1 1269 Missense Mutation GTT,TTT V384F XP_016867855.1
Gene
LOC100506497
Gene Name
uncharacterized LOC100506497
There are no transcripts associated with this gene.

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