Product Details

SNP ID: rs6979
Assay Type: Validated
NCBI dbSNP Submissions: NA
Location: Chr.16:67657765 on Build GRCh38
Set Membership: HapMap Validated
Context Sequence [VIC/FAM]: TGGGGCAGACCCAGGCACTCACCTG[A/G]CAGCTTGGACCCGAGCACAGAGGGA
Phenotype: MIM: 609377 MIM: 610859 MIM: 607484
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ACD PubMed Links

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	1890	Missense Mutation	GCC,GTC	A518V	NP_001075955.1
NM_001082487.1	1890	Missense Mutation	GCC,GTC	A502V	NP_001075956.1
NM_022914.2	1890	Missense Mutation	GCC,GTC	A515V	NP_075065.2
XM_005256115.3	1890	Missense Mutation	GCC,GTC	A489V	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	1890	Intron			NP_001013860.1
NM_001317026.1	1890	Intron			NP_001303955.1
XM_011522874.1	1890	Intron			XP_011521176.1
XM_011522875.2	1890	Intron			XP_011521177.2
XM_017022953.1	1890	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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