Product Details

SNP ID

rs1058636

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67667981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCCAGAGGACAGCCAGAGTGAG[C/G]CCTCACCATCTGCCAAACAGCACAA

Phenotype

MIM: 609377 MIM: 607484

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ACD PubMed Links

Gene Details

Gene

ACD

Gene Name

adrenocortical dysplasia homolog

There are no transcripts associated with this gene.

Gene

C16orf86

Gene Name

chromosome 16 open reading frame 86

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012984.2	601	Missense Mutation	CCC,GCC	P146A	NP_001013002.2
XM_005255952.4	601	Missense Mutation	CCC,GCC	P146A	XP_005256009.1

Gene

ENKD1

Gene Name

enkurin domain containing 1

There are no transcripts associated with this gene.

Gene

GFOD2

Gene Name

glucose-fructose oxidoreductase domain containing 2

There are no transcripts associated with this gene.

Gene

PARD6A

Gene Name

par-6 family cell polarity regulator alpha

There are no transcripts associated with this gene.

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