Product Details

SNP ID

rs149330601

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:95790577 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAAGCCCAGCACCAGCACCCTT[A/G]CCCTTTTCCATCAGGGGTTCAGCCT

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	117	UTR 5			NP_001230705.1
NM_001243777.1	117	UTR 5			NP_001230706.1
NM_014679.4	117	UTR 5			NP_055494.2
XM_006718945.2	117	UTR 5			XP_006719008.1
XM_006718946.2	117	UTR 5			XP_006719009.1
XM_017018592.1	117	Intron			XP_016874081.1
XM_017018593.1	117	UTR 5			XP_016874082.1
XM_017018594.1	117	UTR 5			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	117	Intron			NP_653265.3
XM_005273775.4	117	Intron			XP_005273832.1
XM_005273776.4	117	Intron			XP_005273833.1
XM_011542610.2	117	Intron			XP_011540912.1
XM_011542611.2	117	Intron			XP_011540913.1
XM_011542612.1	117	Intron			XP_011540914.1
XM_011542613.1	117	Intron			XP_011540915.1

View Full Product Details