Product Details

SNP ID: rs149397849
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:27377570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCAGGATGAGTCTGTGTGGACAGCC[C/T]GGCTGCCAGCAGTCCCCAGGGCTGG
Phenotype: MIM: 606687 MIM: 605119 MIM: 605963 MIM: 613598
Polymorphism: C/T, Transition 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	1742	Intron			NP_001253988.1
NM_001267060.1	1742	Intron			NP_001253989.1
NM_001267061.1	1742	Intron			NP_001253990.1
NM_014748.3	1742	Intron			NP_055563.1
XM_011533203.1	1742	Intron			XP_011531505.1
XM_017005405.1	1742	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	1742	Missense Mutation	CAG,CGG	Q472R	NP_001188388.1
NM_144631.5	1742	Missense Mutation	CAG,CGG	Q534R	NP_653232.3
XM_005264142.2	1742	Missense Mutation	CAG,CGG	Q472R	XP_005264199.1
XM_005264143.3	1742	Missense Mutation	CAG,CGG	Q366R	XP_005264200.1

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