Product Details

SNP ID

hCV44825826

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:150446929 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGATTCATCTCGGTCTGCCTTTA[A/C]CTTCATCCCACCAGTCACACGGCAG

Phenotype

MIM: 130620

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RPS14 PubMed Links

Gene Details

Gene

RPS14

Gene Name

ribosomal protein S14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025070.1	457	Missense Mutation	GTA,TTA	V62L	NP_001020241.1
NM_001025071.1	457	Missense Mutation	GTA,TTA	V62L	NP_001020242.1
NM_005617.3	457	Intron			NP_005608.1

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