Product Details

SNP ID: rs116882881
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:12666503 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGCCCAGGCTGGAGTGCATTGTGCA[A/G]TCATGGCTCACTGAAGCCTCCTAAC
Phenotype: MIM: 609702 MIM: 609216
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		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

There are no transcripts associated with this gene.

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