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SNP ID: rs200535238
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:7312796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGCGGGTTCTGGCTGTGTTGGATG[A/G]AGGGGAGCCGAGGGCCAGGTTGGCT
Phenotype: MIM: 600187 MIM: 601935 MIM: 615865
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: EIF5A PubMed Links

Gene Details

Gene: EIF5A
Gene Name: eukaryotic translation initiation factor 5A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143760.1	1020	Intron			NP_001137232.1
NM_001143761.1	1020	Intron			NP_001137233.1
NM_001143762.1	1020	Intron			NP_001137234.1
NM_001970.4	1020	Intron			NP_001961.1
XM_005256509.2	1020	Intron			XP_005256566.1
XM_011523710.2	1020	Intron			XP_011522012.1
XM_011523711.2	1020	Intron			XP_011522013.1
XM_011523712.2	1020	Intron			XP_011522014.1
XM_011523713.2	1020	Intron			XP_011522015.1
XM_017024300.1	1020	Intron			XP_016879789.1
XM_017024301.1	1020	Intron			XP_016879790.1

Gene: GPS2
Gene Name: G protein pathway suppressor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004489.4	1020	Missense Mutation	TCC,TTC	S315F	NP_004480.1

Gene: NEURL4
Gene Name: neuralized E3 ubiquitin protein ligase 4

There are no transcripts associated with this gene.

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