Product Details

SNP ID

rs71353221

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12662187 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATTCACCTAGAAAAGTGCACCAG[A/G]AAGGAAAAAAAAAAAACAGCATATT

Phenotype

MIM: 609702 MIM: 609216

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CEP76 PubMed Links

Additional Information

For this assay, SNP(s) [rs533106830] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CEP76

Gene Name

centrosomal protein 76

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271989.1		Intron			NP_001258918.1
NM_024899.3		Intron			NP_079175.2
XM_005258149.4		Intron			XP_005258206.1
XM_017025981.1		Intron			XP_016881470.1
XM_017025982.1		Intron			XP_016881471.1
XM_017025983.1		Intron			XP_016881472.1
XM_017025984.1		Intron			XP_016881473.1
XM_017025985.1		Intron			XP_016881474.1
XM_017025986.1		Intron			XP_016881475.1
XM_017025987.1		Intron			XP_016881476.1

Gene

PSMG2

Gene Name

proteasome assembly chaperone 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020232.4		Intron			NP_064617.2
NM_147163.1		Intron			NP_671692.1

Gene

SPIRE1

Gene Name

spire type actin nucleation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128626.1		Intron			NP_001122098.1
NM_001128627.1		Intron			NP_001122099.1
NM_020148.2		Intron			NP_064533.3

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