Product Details

SNP ID
rs200317004
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67648897 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCCACCTCCCACATACAGCTGC[G/T]CTCGGCCGGCGCCCAGGTGATACAA
Phenotype
MIM: 609377 MIM: 610859 MIM: 604167
Polymorphism
G/T, 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
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 1664 Missense Mutation CGC,CTC R505L NP_001013860.1
NM_001317026.1 1664 Missense Mutation CGC,CTC R469L NP_001303955.1
XM_011522874.1 1664 Missense Mutation CGC,CTC R474L XP_011521176.1
XM_011522875.2 1664 Missense Mutation CGC,CTC R474L XP_011521177.2
XM_017022953.1 1664 Missense Mutation CGC,CTC R474L XP_016878442.1
Gene
CTCF
Gene Name
CCCTC-binding factor
There are no transcripts associated with this gene.

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