Product Details

SNP ID

rs138221835

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28574159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACTTGATGGGACAGGCATGGCCC[A/G]GGGTCACCATGTTGGGCTTGAGCAG

Phenotype

MIM: 103870 MIM: 610271 MIM: 615562

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALDOC PubMed Links

Gene Details

Gene

ALDOC

Gene Name

aldolase, fructose-bisphosphate C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005165.2	852	Missense Mutation	CCG,CTG	P236L	NP_005156.1
XM_005257949.2	852	Missense Mutation	CCG,CTG	P236L	XP_005258006.1
XM_011524556.1	852	Missense Mutation	CCG,CTG	P236L	XP_011522858.1

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

There are no transcripts associated with this gene.

View Full Product Details