Product Details

SNP ID

rs12273579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:95791257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCACATTAACTTCGTTGTGTGAT[A/G]CTCGTAGCCAGAACGCGCGCTTCCT

Phenotype

MIM: 607951

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP57 PubMed Links

Gene Details

Gene

CEP57

Gene Name

centrosomal protein 57

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243776.1		Intron			NP_001230705.1
NM_001243777.1		Intron			NP_001230706.1
NM_014679.4		Intron			NP_055494.2
XM_006718945.2		Intron			XP_006719008.1
XM_006718946.2		Intron			XP_006719009.1
XM_017018592.1		Intron			XP_016874081.1
XM_017018593.1		Intron			XP_016874082.1
XM_017018594.1		Intron			XP_016874083.1

Gene

FAM76B

Gene Name

family with sequence similarity 76 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144664.4		Intron			NP_653265.3
XM_005273775.4		Intron			XP_005273832.1
XM_005273776.4		Intron			XP_005273833.1
XM_011542610.2		Intron			XP_011540912.1
XM_011542611.2		Intron			XP_011540913.1
XM_011542612.1		Intron			XP_011540914.1
XM_011542613.1		Intron			XP_011540915.1

View Full Product Details