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SNP ID

rs201194773

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38841259 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGCGTGGTAGTCCTGCTGCGCG[C/T]TGTAGGGCGGAATCGCCGACCACAG

Phenotype

MIM: 603662

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C17orf98 PubMed Links

Gene Details

Gene

C17orf98

Gene Name

chromosome 17 open reading frame 98

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080465.2	131	Missense Mutation	AAC,AGC	N44S	NP_001073934.1

Gene

RPL23

Gene Name

ribosomal protein L23

There are no transcripts associated with this gene.

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