Product Details

SNP ID

rs7508949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:20052723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGCTCTGTCGAGCCGTGGCGCC[C/G]TGCAAGGGAGTAAGAACGGAGCTCC

Phenotype

MIM: 610952

Polymorphism

C/G, Transversion 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	135	Intron			NP_001161288.1
NM_015585.3	135	Intron			NP_056400.3
XM_005260688.3	135	Intron			XP_005260745.1
XM_005260689.2	135	Intron			XP_005260746.1
XM_005260690.3	135	Intron			XP_005260747.1
XM_005260691.3	135	Intron			XP_005260748.1
XM_005260692.3	135	Intron			XP_005260749.1
XM_005260693.3	135	Intron			XP_005260750.1
XM_005260695.4	135	Intron			XP_005260752.1
XM_005260696.4	135	Intron			XP_005260753.1
XM_005260697.1	135	Intron			XP_005260754.1
XM_011529211.1	135	Intron			XP_011527513.1
XM_011529212.2	135	Intron			XP_011527514.1
XM_011529213.1	135	Intron			XP_011527515.1
XM_017027786.1	135	Intron			XP_016883275.1
XM_017027787.1	135	Intron			XP_016883276.1
XM_017027788.1	135	Intron			XP_016883277.1
XM_017027789.1	135	Intron			XP_016883278.1
XM_017027790.1	135	Intron			XP_016883279.1
XM_017027791.1	135	Intron			XP_016883280.1
XM_017027792.1	135	Intron			XP_016883281.1
XM_017027793.1	135	Intron			XP_016883282.1
XM_017027794.1	135	Intron			XP_016883283.1
XM_017027795.1	135	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	135	Intron			NP_001265554.1
NM_001278626.1	135	Intron			NP_001265555.1
NM_001278627.1	135	Intron			NP_001265556.1
NM_001278628.1	135	Intron			NP_001265557.1
NM_016652.5	135	Missense Mutation	CGG,GGG	R35G	NP_057736.4

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