Product Details

SNP ID

rs147218951

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12674712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAAGCCAAAGCTGGTGATAAAAG[A/G]TAGGAGAGCTGGTCTTCCCAAACAG

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	1598	Silent Mutation	TAC,TAT	Y480Y	NP_001258918.1
NM_024899.3	1598	Silent Mutation	TAC,TAT	Y555Y	NP_079175.2
XM_005258149.4	1598	Silent Mutation	TAC,TAT	Y555Y	XP_005258206.1
XM_017025981.1	1598	Silent Mutation	TAC,TAT	Y555Y	XP_016881470.1
XM_017025982.1	1598	Silent Mutation	TAC,TAT	Y534Y	XP_016881471.1
XM_017025983.1	1598	Silent Mutation	TAC,TAT	Y512Y	XP_016881472.1
XM_017025984.1	1598	Silent Mutation	TAC,TAT	Y377Y	XP_016881473.1
XM_017025985.1	1598	Silent Mutation	TAC,TAT	Y377Y	XP_016881474.1
XM_017025986.1	1598	Silent Mutation	TAC,TAT	Y377Y	XP_016881475.1
XM_017025987.1	1598	Silent Mutation	TAC,TAT	Y377Y	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	1598	Intron			NP_064617.2
NM_147163.1	1598	Intron			NP_671692.1

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