Product Details

SNP ID

rs117375974

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160394047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATAACTATCATCAACAAAATCGA[C/T]ATTAAAAAGAAATGGATCCAATATC

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	2026	Missense Mutation	ATC,GTC	I482V	NP_001290180.1
NM_022090.4	2026	Missense Mutation	ATC,GTC	I482V	NP_071373.2

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