Product Details

SNP ID

rs199750679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:78240151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTGTGCTAAAGAACCTGGAGCTA[A/G]ATGGACTAATTCTGAGAGAGAGGGA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP78 PubMed Links

Gene Details

Gene

CEP78

Gene Name

centrosomal protein 78

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098802.1	671	Missense Mutation	AAT,GAT	N128D	NP_001092272.1
NM_032171.1	671	Missense Mutation	AAT,GAT	N128D	NP_115547.1
XM_005252263.4	671	Missense Mutation	AAT,GAT	N128D	XP_005252320.1
XM_005252265.2	671	Missense Mutation	AAT,GAT	N128D	XP_005252322.1
XM_005252266.4	671	Missense Mutation	AAT,GAT	N41D	XP_005252323.1
XM_017015192.1	671	Missense Mutation	AAT,GAT	N128D	XP_016870681.1
XM_017015193.1	671	Missense Mutation	AAT,GAT	N128D	XP_016870682.1
XM_017015194.1	671	Missense Mutation	AAT,GAT	N128D	XP_016870683.1
XM_017015195.1	671	Missense Mutation	AAT,GAT	N128D	XP_016870684.1
XM_017015196.1	671	Missense Mutation	AAT,GAT	N41D	XP_016870685.1

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