Product Details

SNP ID

rs150078051

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67657649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCCTGGCTGTGCATCCATCAGA[A/G]AGTGCAAGGCCCAGGCCATGAGCTG

Phenotype

MIM: 609377 MIM: 610859 MIM: 607484

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ACD PubMed Links

Additional Information

For this assay, SNP(s) [rs14920] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ACD

Gene Name

adrenocortical dysplasia homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001082486.1	1929	Missense Mutation	TCT,TTT	S531F	NP_001075955.1
NM_001082487.1	1929	Missense Mutation	TCT,TTT	S515F	NP_001075956.1
NM_022914.2	1929	Missense Mutation	TCT,TTT	S528F	NP_075065.2
XM_005256115.3	1929	Missense Mutation	TCT,TTT	S502F	XP_005256172.1

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013838.1	1929	Intron			NP_001013860.1
NM_001317026.1	1929	Intron			NP_001303955.1
XM_011522874.1	1929	Intron			XP_011521176.1
XM_011522875.2	1929	Intron			XP_011521177.2
XM_017022953.1	1929	Intron			XP_016878442.1

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

There are no transcripts associated with this gene.

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