Product Details

SNP ID: rs149729712
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:67662145 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACATCCGAGATGGCATGAGCGTGC[C/G]TGTGGCTCCCCAGGGCCTGGAGCGG
Phenotype: MIM: 609377 MIM: 610859 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

There are no transcripts associated with this gene.

Gene: CARMIL2
Gene Name: capping protein regulator and myosin 1 linker 2

There are no transcripts associated with this gene.

Gene: ENKD1
Gene Name: enkurin domain containing 1

There are no transcripts associated with this gene.

Gene: PARD6A
Gene Name: par-6 family cell polarity regulator alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037281.1	598	Missense Mutation	CCT,CGT	P179R	NP_001032358.1
NM_016948.2	598	Missense Mutation	CCT,CGT	P180R	NP_058644.1
XM_005255977.3	598	Missense Mutation	CCT,CGT	P191R	XP_005256034.1
XM_011523095.2	598	Missense Mutation	CCT,CGT	P190R	XP_011521397.1
XM_011523096.2	598	Missense Mutation	CCT,CGT	P187R	XP_011521398.1
XM_017023261.1	598	Missense Mutation	CCT,CGT	P175R	XP_016878750.1

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