Product Details

SNP ID

rs199817919

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12674671 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATTGCCTGCTGATATACTTGTT[A/G]TACGCTCAAATTCATAAGAAGCCAA

Phenotype

MIM: 609702

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP76 PubMed Links

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	1639	Missense Mutation	ACA,ATA	T494I	NP_001258918.1
NM_024899.3	1639	Missense Mutation	ACA,ATA	T569I	NP_079175.2
XM_005258149.4	1639	Missense Mutation	ACA,ATA	T569I	XP_005258206.1
XM_017025981.1	1639	Missense Mutation	ACA,ATA	T569I	XP_016881470.1
XM_017025982.1	1639	Missense Mutation	ACA,ATA	T548I	XP_016881471.1
XM_017025983.1	1639	Missense Mutation	ACA,ATA	T526I	XP_016881472.1
XM_017025984.1	1639	Missense Mutation	ACA,ATA	T391I	XP_016881473.1
XM_017025985.1	1639	Missense Mutation	ACA,ATA	T391I	XP_016881474.1
XM_017025986.1	1639	Missense Mutation	ACA,ATA	T391I	XP_016881475.1
XM_017025987.1	1639	Missense Mutation	ACA,ATA	T391I	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	1639	Intron			NP_064617.2
NM_147163.1	1639	Intron			NP_671692.1

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