Product Details

SNP ID

rs7220694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:9643868 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGCTTTATTGGAGTTGGCCATTAC[A/G]TCTTTCTTCTGTGCTTTCCACCAGA

Phenotype

MIM: 609804

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFAP52 PubMed Links

Gene Details

Gene

CFAP52

Gene Name

cilia and flagella associated protein 52

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080556.1		Intron			NP_001074025.1
NM_145054.4		Intron			NP_659491.4
XM_017024227.1		Intron			XP_016879716.1

Gene

USP43

Gene Name

ubiquitin specific peptidase 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267576.1		Intron			NP_001254505.1
NM_153210.4		Intron			NP_694942.3
XM_011523639.2		Intron			XP_011521941.1
XM_011523640.1		Intron			XP_011521942.1
XM_011523641.1		Intron			XP_011521943.1
XM_011523642.2		Intron			XP_011521944.1
XM_017024159.1		Intron			XP_016879648.1
XM_017024160.1		Intron			XP_016879649.1
XM_017024161.1		Intron			XP_016879650.1
XM_017024162.1		Intron			XP_016879651.1

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