Product Details

SNP ID

rs149888744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:49221551 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCACTGAGAAGGAGGGGACGTAC[A/G]ATGGCAGCTGGGCCCTGGCTGATGT

Phenotype

MIM: 616621 MIM: 601716

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX27 PubMed Links

Gene Details

Gene

DDX27

Gene Name

DEAD-box helicase 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017895.7	318	Missense Mutation	AAT,GAT	N96D	NP_060365.7
XM_011528888.2	318	Missense Mutation	AAT,GAT	N96D	XP_011527190.1

Gene

STAU1

Gene Name

staufen double-stranded RNA binding protein 1

There are no transcripts associated with this gene.

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