Product Details

SNP ID
rs138827186
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27378263 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCAGCTCTGGCAGTGGTTCTGAT[A/C]CAGTCCCGCAGAGGCCCTCCCCTTC
Phenotype
MIM: 606687 MIM: 605119 MIM: 605963 MIM: 613598
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EIF2B4 PubMed Links

Gene Details

Gene
EIF2B4
Gene Name
eukaryotic translation initiation factor 2B subunit delta
There are no transcripts associated with this gene.

Gene
PPM1G
Gene Name
protein phosphatase, Mg2+/Mn2+ dependent 1G
There are no transcripts associated with this gene.

Gene
SNX17
Gene Name
sorting nexin 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267059.1 1049 Intron NP_001253988.1
NM_001267060.1 1049 Intron NP_001253989.1
NM_001267061.1 1049 Intron NP_001253990.1
NM_014748.3 1049 Intron NP_055563.1
XM_011533203.1 1049 Intron XP_011531505.1
XM_017005405.1 1049 Intron XP_016860894.1
Gene
ZNF513
Gene Name
zinc finger protein 513
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201459.1 1049 Missense Mutation GGA,GTA G241V NP_001188388.1
NM_144631.5 1049 Missense Mutation GGA,GTA G303V NP_653232.3
XM_005264142.2 1049 Missense Mutation GGA,GTA G241V XP_005264199.1
XM_005264143.3 1049 Missense Mutation GGA,GTA G135V XP_005264200.1

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