Product Details

SNP ID

rs200149751

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:111756157 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCGGCCGGTGCTGGAGGGGCTGC[A/G]GGCGGCCGGCTTCGAGAGGCCCTCG

Phenotype

MIM: 606168

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX20 PubMed Links

Gene Details

Gene

DDX20

Gene Name

DEAD-box helicase 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007204.4	590	Missense Mutation	CAG,CGG	Q78R	NP_009135.4

Gene

FAM212B

Gene Name

family with sequence similarity 212 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019099.4	590	Intron			NP_061972.1
NM_198926.2	590	Intron			NP_945120.1
XM_011541783.2	590	Intron			XP_011540085.1

Gene

FAM212B-AS1

Gene Name

FAM212B antisense RNA 1

There are no transcripts associated with this gene.

Gene

LOC101928718

Gene Name

uncharacterized LOC101928718

There are no transcripts associated with this gene.

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