Product Details

SNP ID

rs180970089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:37621151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTATCCTGTGGATATATTCCACTG[A/C]GCTAGTTGGAAAGTCATAGTTGATC

Phenotype

MIM: 612500 MIM: 607291

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DDX52 PubMed Links

Gene Details

Gene

DDX52

Gene Name

DEAD-box helicase 52

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291476.1	1521	Missense Mutation	GCA,TCA	A385S	NP_001278405.1
NM_007010.4	1521	Missense Mutation	GCA,TCA	A493S	NP_008941.3
XM_011524232.2	1521	Missense Mutation	GCA,TCA	A493S	XP_011522534.1
XM_011524233.2	1521	Missense Mutation	GCA,TCA	A253S	XP_011522535.1

Gene

MIR378J

Gene Name

microRNA 378j

There are no transcripts associated with this gene.

Gene

SYNRG

Gene Name

synergin, gamma

There are no transcripts associated with this gene.

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