Product Details

SNP ID
rs200521454
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41981939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGATCAGAGAGGATAGTAAAGG[A/C]CTCTCCAACTTCCTTGAACTTCTTC
Phenotype
MIM: 123830 MIM: 601964
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CNP PubMed Links

Gene Details

Gene
CNP
Gene Name
2',3'-cyclic nucleotide 3' phosphodiesterase
There are no transcripts associated with this gene.

Gene
DNAJC7
Gene Name
DnaJ heat shock protein family (Hsp40) member C7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144766.2 1471 Missense Mutation GCC,TCC A378S NP_001138238.1
NM_003315.3 1471 Missense Mutation GCC,TCC A434S NP_003306.3
XM_011525167.2 1471 Missense Mutation GCC,TCC A378S XP_011523469.1
XM_011525168.2 1471 Missense Mutation GCC,TCC A378S XP_011523470.1
XM_011525169.2 1471 Intron XP_011523471.1
XM_017024994.1 1471 Missense Mutation GCC,TCC A378S XP_016880483.1

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