Product Details

SNP ID

rs1046871

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12673429 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGCACATGCAGATTCAGGGTAA[A/G]TAAATACTCGGACACGAACTGCCAG

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	1849	Missense Mutation	ACT,ATT	T564I	NP_001258918.1
NM_024899.3	1849	Missense Mutation	ACT,ATT	T639I	NP_079175.2
XM_005258149.4	1849	Missense Mutation	ACT,ATT	T639I	XP_005258206.1
XM_017025981.1	1849	Missense Mutation	ACT,ATT	T639I	XP_016881470.1
XM_017025982.1	1849	Missense Mutation	ACT,ATT	T618I	XP_016881471.1
XM_017025983.1	1849	Missense Mutation	ACT,ATT	T596I	XP_016881472.1
XM_017025984.1	1849	Missense Mutation	ACT,ATT	T461I	XP_016881473.1
XM_017025985.1	1849	Missense Mutation	ACT,ATT	T461I	XP_016881474.1
XM_017025986.1	1849	Missense Mutation	ACT,ATT	T461I	XP_016881475.1
XM_017025987.1	1849	Missense Mutation	ACT,ATT	T461I	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	1849	Intron			NP_064617.2
NM_147163.1	1849	Intron			NP_671692.1

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