Product Details

SNP ID

rs145671545

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28573799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTCCCGTTGCCCTCGCCAGGCA[C/T]TGAGTGCAGAGGCTTGCAGGGCACG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005165.2	1080	Missense Mutation	AAT,AGT	N312S	NP_005156.1
XM_005257949.2	1080	Missense Mutation	AAT,AGT	N312S	XP_005258006.1
XM_011524556.1	1080	Missense Mutation	AAT,AGT	N312S	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