Product Details

SNP ID

rs140433074

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46291454 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAGAAAATGAAGATTACAATGAC[A/G]TCCTGACTGTAAGCGGGGATGCTGA

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	431	Missense Mutation	ATC,GTC	I111V	NP_001006114.1
NM_001314022.1	431	Intron			NP_001300951.1
NM_001314023.1	431	Missense Mutation	ATC,GTC	I66V	NP_001300952.1
NM_001314024.1	431	Intron			NP_001300953.1
NM_001314025.1	431	Missense Mutation	ATC,GTC	I111V	NP_001300954.1
NM_001314026.1	431	Missense Mutation	ATC,GTC	I111V	NP_001300955.1
NM_058181.2	431	Missense Mutation	ATC,GTC	I111V	NP_478061.1
XM_005261156.3	431	Intron			XP_005261213.2
XM_011529629.2	431	Missense Mutation	ATC,GTC	I111V	XP_011527931.1
XM_011529630.2	431	Missense Mutation	ATC,GTC	I111V	XP_011527932.1
XM_011529631.2	431	Missense Mutation	ATC,GTC	I111V	XP_011527933.1
XM_011529633.2	431	Missense Mutation	ATC,GTC	I111V	XP_011527935.1
XM_011529634.2	431	Intron			XP_011527936.2
XM_011529635.2	431	Missense Mutation	ATC,GTC	I111V	XP_011527937.1
XM_017028394.1	431	Intron			XP_016883883.1
XM_017028395.1	431	Intron			XP_016883884.1
XM_017028396.1	431	Intron			XP_016883885.1

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