Product Details

SNP ID

rs28685661

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:37610648 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACGCATTTTAAAAAATCCTCAGT[A/C]TCCTTAGGAGTTACAATTGGCATCT

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	2990	UTR 3			NP_001278405.1
NM_007010.4	2990	UTR 3			NP_008941.3
XM_011524232.2	2990	UTR 3			XP_011522534.1
XM_011524233.2	2990	UTR 3			XP_011522535.1

Gene

MIR378J

Gene Name

microRNA 378j

There are no transcripts associated with this gene.

Gene

SYNRG

Gene Name

synergin, gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163544.2	2990	Intron			NP_001157016.1
NM_001163545.2	2990	Intron			NP_001157017.1
NM_001163546.2	2990	Intron			NP_001157018.1
NM_001163547.2	2990	Intron			NP_001157019.1
NM_007247.5	2990	Intron			NP_009178.3
NM_080550.4	2990	Intron			NP_542117.3
NM_198882.2	2990	Intron			NP_942583.1
XM_005256980.4	2990	Intron			XP_005257037.1
XM_017024076.1	2990	Intron			XP_016879565.1
XM_017024077.1	2990	Intron			XP_016879566.1
XM_017024078.1	2990	Intron			XP_016879567.1
XM_017024079.1	2990	Intron			XP_016879568.1
XM_017024080.1	2990	UTR 5			XP_016879569.1
XM_017024081.1	2990	UTR 5			XP_016879570.1
XM_017024082.1	2990	Intron			XP_016879571.1
XM_017024083.1	2990	Intron			XP_016879572.1
XM_017024084.1	2990	Intron			XP_016879573.1
XM_017024085.1	2990	Intron			XP_016879574.1
XM_017024086.1	2990	Intron			XP_016879575.1
XM_017024087.1	2990	Intron			XP_016879576.1
XM_017024088.1	2990	Intron			XP_016879577.1
XM_017024089.1	2990	Intron			XP_016879578.1
XM_017024090.1	2990	Intron			XP_016879579.1
XM_017024091.1	2990	Intron			XP_016879580.1
XM_017024092.1	2990	Intron			XP_016879581.1
XM_017024093.1	2990	Intron			XP_016879582.1
XM_017024094.1	2990	Intron			XP_016879583.1
XM_017024095.1	2990	Intron			XP_016879584.1
XM_017024096.1	2990	Intron			XP_016879585.1
XM_017024097.1	2990	Intron			XP_016879586.1
XM_017024098.1	2990	Intron			XP_016879587.1
XM_017024099.1	2990	Intron			XP_016879588.1
XM_017024100.1	2990	Intron			XP_016879589.1
XM_017024101.1	2990	Intron			XP_016879590.1
XM_017024102.1	2990	Intron			XP_016879591.1
XM_017024103.1	2990	Intron			XP_016879592.1
XM_017024104.1	2990	Intron			XP_016879593.1
XM_017024105.1	2990	Intron			XP_016879594.1
XM_017024106.1	2990	Intron			XP_016879595.1

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