Product Details

SNP ID

rs116685424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28578485 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCACTTTGGTCTCTGTCTCCGCA[C/T]GCCGAAGTGAGCGGGTAAGGTGGGT

Phenotype

MIM: 103870 MIM: 610271 MIM: 615562

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALDOC PubMed Links

Gene Details

Gene

ALDOC

Gene Name

aldolase, fructose-bisphosphate C

There are no transcripts associated with this gene.

Gene

PIGS

Gene Name

phosphatidylinositol glycan anchor biosynthesis class S

There are no transcripts associated with this gene.

Gene

SPAG5

Gene Name

sperm associated antigen 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006461.3	3334	Missense Mutation	CAT,CGT	H1081R	NP_006452.3

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