Product Details

SNP ID

rs141760728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160404876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCTCATTTATAATACACTCCTCA[C/G]AGTTCTGTGGGAAATACATGTAATT

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	1899	Missense Mutation	TCT,TGT	S466C	NP_006416.3
XM_005265793.3	1899	Missense Mutation	TCT,TGT	S476C	XP_005265850.1
XM_011534418.2	1899	Missense Mutation	TCT,TGT	S466C	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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