Product Details

SNP ID

rs2273058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:20052675 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCGCATCCCCAGGTCAGCCTCCGGA[A/G]CTGGGATGACCAGGCGAGGACGAGT

Phenotype

MIM: 610952

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFAP61 PubMed Links

Gene Details

Gene

CFAP61

Gene Name

cilia and flagella associated protein 61

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167816.1	183	Intron			NP_001161288.1
NM_015585.3	183	Intron			NP_056400.3
XM_005260688.3	183	Intron			XP_005260745.1
XM_005260689.2	183	Intron			XP_005260746.1
XM_005260690.3	183	Intron			XP_005260747.1
XM_005260691.3	183	Intron			XP_005260748.1
XM_005260692.3	183	Intron			XP_005260749.1
XM_005260693.3	183	Intron			XP_005260750.1
XM_005260695.4	183	Intron			XP_005260752.1
XM_005260696.4	183	Intron			XP_005260753.1
XM_005260697.1	183	Intron			XP_005260754.1
XM_011529211.1	183	Intron			XP_011527513.1
XM_011529212.2	183	Intron			XP_011527514.1
XM_011529213.1	183	Intron			XP_011527515.1
XM_017027786.1	183	Intron			XP_016883275.1
XM_017027787.1	183	Intron			XP_016883276.1
XM_017027788.1	183	Intron			XP_016883277.1
XM_017027789.1	183	Intron			XP_016883278.1
XM_017027790.1	183	Intron			XP_016883279.1
XM_017027791.1	183	Intron			XP_016883280.1
XM_017027792.1	183	Intron			XP_016883281.1
XM_017027793.1	183	Intron			XP_016883282.1
XM_017027794.1	183	Intron			XP_016883283.1
XM_017027795.1	183	Intron			XP_016883284.1

Gene

CRNKL1

Gene Name

crooked neck pre-mRNA splicing factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278625.1	183	Missense Mutation	CTC,TTC	L39F	NP_001265554.1
NM_001278626.1	183	UTR 5			NP_001265555.1
NM_001278627.1	183	Intron			NP_001265556.1
NM_001278628.1	183	Intron			NP_001265557.1
NM_016652.5	183	Missense Mutation	CTC,TTC	L51F	NP_057736.4

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