Product Details

SNP ID
rs145267170
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46291342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTCCTCATTTTTTAGCATCTGAA[A/G]GCAGGTGAATTTCCCCAGCCTGATT
Phenotype
MIM: 603294
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C21orf58 PubMed Links

Gene Details

Gene
C21orf58
Gene Name
chromosome 21 open reading frame 58
There are no transcripts associated with this gene.

Gene
MCM3AP
Gene Name
minichromosome maintenance complex component 3 associated protein
There are no transcripts associated with this gene.

Gene
YBEY
Gene Name
ybeY metallopeptidase (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001006114.2 319 Silent Mutation AAA,AAG K73K NP_001006114.1
NM_001314022.1 319 Intron NP_001300951.1
NM_001314023.1 319 Silent Mutation AAA,AAG K28K NP_001300952.1
NM_001314024.1 319 Intron NP_001300953.1
NM_001314025.1 319 Silent Mutation AAA,AAG K73K NP_001300954.1
NM_001314026.1 319 Silent Mutation AAA,AAG K73K NP_001300955.1
NM_058181.2 319 Silent Mutation AAA,AAG K73K NP_478061.1
XM_005261156.3 319 Intron XP_005261213.2
XM_011529629.2 319 Silent Mutation AAA,AAG K73K XP_011527931.1
XM_011529630.2 319 Silent Mutation AAA,AAG K73K XP_011527932.1
XM_011529631.2 319 Silent Mutation AAA,AAG K73K XP_011527933.1
XM_011529633.2 319 Silent Mutation AAA,AAG K73K XP_011527935.1
XM_011529634.2 319 Intron XP_011527936.2
XM_011529635.2 319 Silent Mutation AAA,AAG K73K XP_011527937.1
XM_017028394.1 319 Intron XP_016883883.1
XM_017028395.1 319 Intron XP_016883884.1
XM_017028396.1 319 Intron XP_016883885.1

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