Product Details

SNP ID

rs79395473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46291430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGAGTATATCTTCCATCAGTGT[A/G]AAGAAAATGAAGATTACAATGACGT

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	407	Missense Mutation	AAA,GAA	K103E	NP_001006114.1
NM_001314022.1	407	Intron			NP_001300951.1
NM_001314023.1	407	Missense Mutation	AAA,GAA	K58E	NP_001300952.1
NM_001314024.1	407	Intron			NP_001300953.1
NM_001314025.1	407	Missense Mutation	AAA,GAA	K103E	NP_001300954.1
NM_001314026.1	407	Missense Mutation	AAA,GAA	K103E	NP_001300955.1
NM_058181.2	407	Missense Mutation	AAA,GAA	K103E	NP_478061.1
XM_005261156.3	407	Intron			XP_005261213.2
XM_011529629.2	407	Missense Mutation	AAA,GAA	K103E	XP_011527931.1
XM_011529630.2	407	Missense Mutation	AAA,GAA	K103E	XP_011527932.1
XM_011529631.2	407	Missense Mutation	AAA,GAA	K103E	XP_011527933.1
XM_011529633.2	407	Missense Mutation	AAA,GAA	K103E	XP_011527935.1
XM_011529634.2	407	Intron			XP_011527936.2
XM_011529635.2	407	Missense Mutation	AAA,GAA	K103E	XP_011527937.1
XM_017028394.1	407	Intron			XP_016883883.1
XM_017028395.1	407	Intron			XP_016883884.1
XM_017028396.1	407	Intron			XP_016883885.1

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