Product Details

SNP ID

rs115721984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:8684806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCCAACTGTCAACCTTGACAAA[G/T]TGTGGACTTTGGTCAGTGAACAGAC

Phenotype

MIM: 603637 MIM: 611333 MIM: 140750 MIM: 612000

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RPL27A PubMed Links

Gene Details

Gene

RPL27A

Gene Name

ribosomal protein L27a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000990.4	598	Missense Mutation	GTG,TTG	V78L	NP_000981.1

Gene

SNORA3A

Gene Name

small nucleolar RNA, H/ACA box 3A

There are no transcripts associated with this gene.

Gene

SNORA3B

Gene Name

small nucleolar RNA, H/ACA box 3B

There are no transcripts associated with this gene.

Gene

ST5

Gene Name

suppression of tumorigenicity 5

There are no transcripts associated with this gene.

Gene

TRIM66

Gene Name

tripartite motif containing 66

There are no transcripts associated with this gene.

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