Product Details

SNP ID
rs76345139
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41981870 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAACTCACCACCCATATTCATGC[C/T]CTCCTCATCTAGGTCCTGTCCACTG
Phenotype
MIM: 123830 MIM: 601964
Polymorphism
C/T, Transition 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 1540 Missense Mutation AGC,GGC S401G NP_001138238.1
NM_003315.3 1540 Missense Mutation AGC,GGC S457G NP_003306.3
XM_011525167.2 1540 Missense Mutation AGC,GGC S401G XP_011523469.1
XM_011525168.2 1540 Missense Mutation AGC,GGC S401G XP_011523470.1
XM_011525169.2 1540 Intron XP_011523471.1
XM_017024994.1 1540 Missense Mutation AGC,GGC S401G XP_016880483.1

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