Product Details

SNP ID

rs199937725

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128922328 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGTGCCCTGAGCGTCTCCATGG[A/C]CTGCCTGAGCCCCTCGCAGCTCCAG

Phenotype

MIM: 608360

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LRRC8A PubMed Links

Gene Details

Gene

LRRC8A

Gene Name

leucine rich repeat containing 8 family member A

There are no transcripts associated with this gene.

Gene

PHYHD1

Gene Name

phytanoyl-CoA dioxygenase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100876.1	938	Missense Mutation	GAC,GCC	D2A	NP_001094346.1
NM_001100877.1	938	Missense Mutation	GAC,GCC	D2A	NP_001094347.1
NM_174933.3	938	Missense Mutation	GAC,GCC	D2A	NP_777593.2

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