Product Details

SNP ID

rs144239469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160394044 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAAATAACTATCATCAACAAAAT[C/T]GATATTAAAAAGAAATGGATCCAAT

Phenotype

MIM: 605974 MIM: 615253

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLU7 PubMed Links

Gene Details

Gene

SLU7

Gene Name

SLU7 homolog, splicing factor

There are no transcripts associated with this gene.

Gene

ZBED8

Gene Name

zinc finger BED-type containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303251.1	2029	Missense Mutation	AAT,GAT	N483D	NP_001290180.1
NM_022090.4	2029	Missense Mutation	AAT,GAT	N483D	NP_071373.2

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