Product Details

SNP ID

rs61130227

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:43166877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGCCTTCTTGCGCTGTGCCAGA[A/G]GTTTCTGATCTCCCTCAAGGAAATC

Phenotype

MIM: 614259 MIM: 614443

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFAP57 PubMed Links

Gene Details

Gene

CFAP57

Gene Name

cilia and flagella associated protein 57

There are no transcripts associated with this gene.

Gene

EBNA1BP2

Gene Name

EBNA1 binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159936.1	970	Missense Mutation	CCT,CTT	P274L	NP_001153408.1
NM_006824.2	970	Missense Mutation	CCT,CTT	P219L	NP_006815.2

Gene

MIR6733

Gene Name

microRNA 6733

There are no transcripts associated with this gene.

View Full Product Details