Product Details

SNP ID

rs142231194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99327594 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTTCACTCTCCTTGACTTCTTG[A/C]AAAAAGTCTCTTTCACTAGGGATTT

Phenotype

MIM: 606086 MIM: 612564

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EIF5B PubMed Links

Gene Details

Gene

EIF5B

Gene Name

eukaryotic translation initiation factor 5B

There are no transcripts associated with this gene.

Gene

TXNDC9

Gene Name

thioredoxin domain containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005783.3	399	Missense Mutation	TTG,TTT	L83F	NP_005774.2
XM_017003147.1	399	Missense Mutation	TTG,TTT	L83F	XP_016858636.1

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