Product Details

SNP ID

rs202245502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160405047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTACTTACAACAATCTCCTTCCCA[C/G]CTTCTCCAGTACAATAGGAATACTT

Phenotype

MIM: 605974 MIM: 615253

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SLU7 PubMed Links

Gene Details

Gene

SLU7

Gene Name

SLU7 homolog, splicing factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006425.4	1878	Missense Mutation	GCT,GGT	A459G	NP_006416.3
XM_005265793.3	1878	Missense Mutation	GCT,GGT	A469G	XP_005265850.1
XM_011534418.2	1878	Missense Mutation	GCT,GGT	A459G	XP_011532720.1

Gene

ZBED8

Gene Name

zinc finger BED-type containing 8

There are no transcripts associated with this gene.

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