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SNP ID

rs1061695

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:66994269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAACGCACTGATGAGATCTTCCTT[T/C]TTGGCAACCTGACCTTTAGAAACAT

Phenotype

MIM: 607444 MIM: 611243

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

SBDS PubMed Links

Gene Details

Gene

SBDS

Gene Name

SBDS ribosome assembly guanine nucleotide exchange factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016038.2	385	Silent Mutation			NP_057122.2

Gene

TYW1

Gene Name

tRNA-yW synthesizing protein 1 homolog

There are no transcripts associated with this gene.

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