Product Details

SNP ID
rs199724299
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39175406 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGGGTCTCCAAGCCCTGGCCC[C/T]TCTGAGGGGTCAGTCTCCATGTCCA
Phenotype
MIM: 114207
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ARL5C PubMed Links

Gene Details

Gene
ARL5C
Gene Name
ADP ribosylation factor like GTPase 5C
There are no transcripts associated with this gene.

Gene
CACNB1
Gene Name
calcium voltage-gated channel auxiliary subunit beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000723.4 2151 Silent Mutation GAA,GAG E528E NP_000714.3
NM_199247.2 2151 Intron NP_954855.1
NM_199248.2 2151 Intron NP_954856.1
XM_005257645.2 2151 Silent Mutation GAA,GAG E573E XP_005257702.1
XM_005257646.2 2151 Intron XP_005257703.1
XM_006722072.2 2151 Silent Mutation GAA,GAG E526E XP_006722135.1
XM_017025024.1 2151 Silent Mutation GAA,GAG E529E XP_016880513.1
XM_017025025.1 2151 Silent Mutation GAA,GAG E481E XP_016880514.1
XM_017025026.1 2151 Silent Mutation GAA,GAG E361E XP_016880515.1
XM_017025027.1 2151 Silent Mutation GAA,GAG E300E XP_016880516.1
XM_017025028.1 2151 Silent Mutation GAA,GAG E300E XP_016880517.1
XM_017025029.1 2151 Silent Mutation GAA,GAG E300E XP_016880518.1
XM_017025030.1 2151 Intron XP_016880519.1

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