Product Details

SNP ID
rs146719191
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1786553 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGCCCAGAGCCTGGAAACCTGGC[C/T]GGCGTCAGGCACATCATCCTGGTCC
Phenotype
MIM: 610886 MIM: 601489 MIM: 610779 MIM: 611659
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EME2 PubMed Links

Gene Details

Gene
EME2
Gene Name
essential meiotic structure-specific endonuclease subunit 2
There are no transcripts associated with this gene.

Gene
IGFALS
Gene Name
insulin like growth factor binding protein acid labile subunit
There are no transcripts associated with this gene.

Gene
NUBP2
Gene Name
nucleotide binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284501.1 131 UTR 5 NP_001271430.1
NM_001284502.1 131 UTR 5 NP_001271431.1
NM_012225.3 131 Silent Mutation GCC,GCT A11A NP_036357.1
XM_005255027.2 131 UTR 5 XP_005255084.1
XM_005255030.1 131 UTR 5 XP_005255087.1
XM_011522338.2 131 Missense Mutation CGG,TGG R21W XP_011520640.1
XM_017022831.1 131 UTR 5 XP_016878320.1
XM_017022832.1 131 Missense Mutation CGG,TGG R32W XP_016878321.1
Gene
SPSB3
Gene Name
splA/ryanodine receptor domain and SOCS box containing 3
There are no transcripts associated with this gene.

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