Product Details

SNP ID

rs189165159

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:43164455 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAAGATGCTATTTAGTGTGTTCT[G/T]TTCTTCATCTTCTCTCTTGTTCGTT

Phenotype

MIM: 614259 MIM: 614443

Polymorphism

G/T, Transversion 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	1223	Missense Mutation	AAA,AAC	K358N	NP_001153408.1
NM_006824.2	1223	Missense Mutation	AAA,AAC	K303N	NP_006815.2

Gene

FAM183A

Gene Name

family with sequence similarity 183 member A

There are no transcripts associated with this gene.

Gene

MIR6733

Gene Name

microRNA 6733

There are no transcripts associated with this gene.

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