Product Details

SNP ID

rs138428820

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38479627 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCTGTGCCTATGTTACAGTGT[A/G]CATGATATATGGGAAATTCCGTAAA

Phenotype

MIM: 608469

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX17 PubMed Links

Gene Details

Gene

DDX17

Gene Name

DEAD-box helicase 17

There are no transcripts associated with this gene.

Gene

KDELR3

Gene Name

KDEL endoplasmic reticulum protein retention receptor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006855.3	399	Missense Mutation	TAC,TGC	Y76C	NP_006846.1
NM_016657.2	399	Missense Mutation	TAC,TGC	Y76C	NP_057839.1

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