Product Details

SNP ID

rs72827605

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5478802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAGGGTGGAAAAAACAATTATGG[C/T]ATACTAAGTTTACAAGGTTACAAAA

Phenotype

MIM: 610304 MIM: 614405 MIM: 609178

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DERL2 PubMed Links

Gene Details

Gene

DERL2

Gene Name

derlin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304777.1		Intron			NP_001291706.1
NM_001304779.1		Intron			NP_001291708.1
NM_016041.4		Intron			NP_057125.2

Gene

DHX33

Gene Name

DEAH-box helicase 33

There are no transcripts associated with this gene.

Gene

LOC105371506

Gene Name

uncharacterized LOC105371506

There are no transcripts associated with this gene.

Gene

MIS12

Gene Name

MIS12, kinetochore complex component

There are no transcripts associated with this gene.

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