Product Details

SNP ID

rs139869362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92489865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACTGGTCTTTCCCAGGAACTCCA[C/G]GCAAATCCTGAGTCATGGAGCTTGG

Phenotype

MIM: 614518 MIM: 602136

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GATAD1 PubMed Links

Gene Details

Gene

GATAD1

Gene Name

GATA zinc finger domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021167.4	3616	Intron			NP_066990.3

Gene

PEX1

Gene Name

peroxisomal biogenesis factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000466.2	3616	Missense Mutation	CCT,CGT	P1162R	NP_000457.1
NM_001282677.1	3616	Missense Mutation	CCT,CGT	P1105R	NP_001269606.1
NM_001282678.1	3616	Missense Mutation	CCT,CGT	P954R	NP_001269607.1
XM_017012319.1	3616	Missense Mutation	CCT,CGT	P579R	XP_016867808.1

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