Product Details

SNP ID

rs80017051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46324288 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAGGCCGGGAGGACGAAGGTAAA[C/T]ATTAGGGGCTTCTTCTCTAGCTGCT

Phenotype

MIM: 605925

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C21orf58 PubMed Links

Gene Details

Gene

C21orf58

Gene Name

chromosome 21 open reading frame 58

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286462.1		Intron			NP_001273391.1
NM_001286463.1		Intron			NP_001273392.1
NM_001286476.1		Intron			NP_001273405.1
NM_001286477.1		Intron			NP_001273406.1
NM_058180.4		Intron			NP_478060.2
XM_005261148.4		Intron			XP_005261205.1
XM_006724018.3		Intron			XP_006724081.1
XM_011529619.2		Intron			XP_011527921.1
XM_011529620.2		Intron			XP_011527922.1
XM_011529621.2		Intron			XP_011527923.1
XM_011529623.2		Intron			XP_011527925.1
XM_011529624.2		Intron			XP_011527926.1
XM_011529625.2		Intron			XP_011527927.1
XM_011529626.2		Intron			XP_011527928.1
XM_011529627.2		Intron			XP_011527929.1
XM_011529628.1		Intron			XP_011527930.1
XM_017028388.1		Intron			XP_016883877.1
XM_017028389.1		Intron			XP_016883878.1
XM_017028390.1		Intron			XP_016883879.1
XM_017028391.1		Intron			XP_016883880.1
XM_017028392.1		Intron			XP_016883881.1
XM_017028393.1		Intron			XP_016883882.1

Gene

PCNT

Gene Name

pericentrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001315529.1		Intron			NP_001302458.1
NM_006031.5		Intron			NP_006022.3
XM_005261124.4		Intron			XP_005261181.1
XM_011529594.2		Intron			XP_011527896.1
XM_017028362.1		Intron			XP_016883851.1
XM_017028363.1		Intron			XP_016883852.1

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