Product Details

SNP ID
rs114975292
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:51367457 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCTCTTCCCGCTGTCCAGTTTAC[A/C]CGCGAGAATTGAGAAGGGTAAGGCC
Phenotype
MIM: 130410 MIM: 606008
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CLDND2 PubMed Links

Gene Details

Gene
CLDND2
Gene Name
claudin domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152353.2 1537 Missense Mutation GGC,TGC G144C NP_689566.1
XM_011526425.2 1537 Missense Mutation GGT,TGT G144C XP_011524727.1
XM_011526428.2 1537 UTR 3 XP_011524730.1
XM_017026244.1 1537 Missense Mutation GGT,TGT G287C XP_016881733.1
XM_017026245.1 1537 Missense Mutation GGT,TGT G287C XP_016881734.1
XM_017026246.1 1537 Missense Mutation GGT,TGT G247C XP_016881735.1
XM_017026247.1 1537 Missense Mutation GGC,TGC G287C XP_016881736.1
Gene
ETFB
Gene Name
electron transfer flavoprotein beta subunit
There are no transcripts associated with this gene.

Gene
NKG7
Gene Name
natural killer cell granule protein 7
There are no transcripts associated with this gene.

View Full Product Details