Product Details

SNP ID

rs113058519

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128927111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGTGTGGCCATGCAACAAAGGA[C/T]TGGCGAGATAGTGGCTGAAATGGAT

Phenotype

MIM: 608360

Polymorphism

C/T, Transition 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	1040	Missense Mutation	ACT,ATT	T36I	NP_001094346.1
NM_001100877.1	1040	Missense Mutation	ACT,ATT	T36I	NP_001094347.1
NM_174933.3	1040	Missense Mutation	ACT,ATT	T36I	NP_777593.2

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