Product Details

SNP ID

rs201676074

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63819858 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACGTTGCTGTGCTCTTTGGTCCT[C/T]CTTCATCCTTGAGTCCACCACCTTG

Phenotype

MIM: 613369 MIM: 601681

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DDX42 PubMed Links

Gene Details

Gene

DDX42

Gene Name

DEAD-box helicase 42

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007372.3	3134	Intron			NP_031398.2
NM_203499.2	3134	Intron			NP_987095.1
XM_006721657.1	3134	Intron			XP_006721720.1
XM_011524259.2	3134	Intron			XP_011522561.1
XM_017024111.1	3134	Intron			XP_016879600.1
XM_017024112.1	3134	Intron			XP_016879601.1

Gene

FTSJ3

Gene Name

FtsJ homolog 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017647.3	3134	Missense Mutation	AAG,GAG	K830E	NP_060117.3

Gene

PSMC5

Gene Name

proteasome 26S subunit, ATPase 5

There are no transcripts associated with this gene.

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