Product Details

SNP ID
rs148341217
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67662493 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAACCGCCAGCCTCCCAGTTCCA[A/G]TGGGCTGTCTCAGGGGCCCCCGTGC
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
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_001037281.1 946 Missense Mutation AAT,AGT N295S NP_001032358.1
NM_016948.2 946 Missense Mutation AAT,AGT N296S NP_058644.1
XM_005255977.3 946 Missense Mutation AAT,AGT N307S XP_005256034.1
XM_011523095.2 946 Missense Mutation AAT,AGT N306S XP_011521397.1
XM_011523096.2 946 Missense Mutation AAT,AGT N303S XP_011521398.1
XM_017023261.1 946 Missense Mutation AAT,AGT N291S XP_016878750.1

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