Product Details

SNP ID

rs112440368

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:23787179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGAGATATTAAATGATGACTCCT[A/C]GAAATGAACCTGAATAAGGACTACC

Phenotype

MIM: 606953 MIM: 616143

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GALE PubMed Links

Gene Details

Gene

GALE

Gene Name

UDP-galactose-4-epimerase

There are no transcripts associated with this gene.

Gene

LYPLA2

Gene Name

lysophospholipase II

There are no transcripts associated with this gene.

Gene

PITHD1

Gene Name

PITH domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020362.4		Intron			NP_065095.2
XM_011541804.1		Intron			XP_011540106.1

Gene

TCEB3-AS1

Gene Name

TCEB3 antisense RNA 1

There are no transcripts associated with this gene.

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