Product Details

SNP ID

rs143598035

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12674674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGCCTGCTGATATACTTGTTGTA[C/T]GCTCAAATTCATAAGAAGCCAAAGC

Phenotype

MIM: 609702

Polymorphism

C/T, 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	1636	Missense Mutation	CAT,CGT	H493R	NP_001258918.1
NM_024899.3	1636	Missense Mutation	CAT,CGT	H568R	NP_079175.2
XM_005258149.4	1636	Missense Mutation	CAT,CGT	H568R	XP_005258206.1
XM_017025981.1	1636	Missense Mutation	CAT,CGT	H568R	XP_016881470.1
XM_017025982.1	1636	Missense Mutation	CAT,CGT	H547R	XP_016881471.1
XM_017025983.1	1636	Missense Mutation	CAT,CGT	H525R	XP_016881472.1
XM_017025984.1	1636	Missense Mutation	CAT,CGT	H390R	XP_016881473.1
XM_017025985.1	1636	Missense Mutation	CAT,CGT	H390R	XP_016881474.1
XM_017025986.1	1636	Missense Mutation	CAT,CGT	H390R	XP_016881475.1
XM_017025987.1	1636	Missense Mutation	CAT,CGT	H390R	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	1636	Intron			NP_064617.2
NM_147163.1	1636	Intron			NP_671692.1

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