Product Details

SNP ID

rs202005387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:80037472 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTGTGTACCCCTGAAGTGAGTC[A/G]GGAGCTGTATGACCTTAACGTGGAG

Phenotype

MIM: 611595

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RBFA PubMed Links

Gene Details

Gene

RBFA

Gene Name

ribosome binding factor A (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171967.1	494	Missense Mutation	CAG,CGG	Q115R	NP_001165438.1
NM_024805.2	494	Missense Mutation	CAG,CGG	Q115R	NP_079081.2

Gene

TXNL4A

Gene Name

thioredoxin like 4A

There are no transcripts associated with this gene.

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