Product Details

SNP ID
rs118040419
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67649546 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAATCCTAACCTGACCGCGCTGGAT[A/G]TCAGCGGCAACGCCATGGGGGACGC
Phenotype
MIM: 609377 MIM: 610859
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
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 1996 Missense Mutation ATC,GTC I616V NP_001013860.1
NM_001317026.1 1996 Missense Mutation ATC,GTC I580V NP_001303955.1
XM_011522874.1 1996 Missense Mutation ATC,GTC I585V XP_011521176.1
XM_011522875.2 1996 Missense Mutation ATC,GTC I585V XP_011521177.2
XM_017022953.1 1996 Missense Mutation ATC,GTC I585V XP_016878442.1

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