Product Details

SNP ID

rs142985043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:50104666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCATGTGGGTATTTGAGGAAGACA[C/T]TGGAGGCAAAAAGCTGACTGAGATC

Phenotype

MIM: 614478 MIM: 138420 MIM: 601735

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COX14 PubMed Links

Gene Details

Gene

COX14

Gene Name

COX14, cytochrome c oxidase assembly factor

There are no transcripts associated with this gene.

Gene

GPD1

Gene Name

glycerol-3-phosphate dehydrogenase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257199.1	366	Missense Mutation	ACT,ATT	T45I	NP_001244128.1
NM_005276.3	366	Missense Mutation	ACT,ATT	T45I	NP_005267.2

Gene

SMARCD1

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1

There are no transcripts associated with this gene.

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