Product Details

SNP ID

rs4450527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17517543 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TACCTGCCTGCTGGGCTCAATCCTT[C/T]CAGGTCTCAGTTGAGCCCCTTAAAA

Phenotype

MIM: 609967 MIM: 604951

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM129C PubMed Links

Gene Details

Gene

FAM129C

Gene Name

family with sequence similarity 129 member C

There are no transcripts associated with this gene.

Gene

PGLS

Gene Name

6-phosphogluconolactonase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012088.2		Intron			NP_036220.1
XM_011527897.2		Intron			XP_011526199.1

View Full Product Details