Product Details

SNP ID

rs145079188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:20052554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGGCTGCGCGTCCTCCTTGCGG[C/T]AGCGCGTGGAGTGCGGCGTCCTGGA

Phenotype

MIM: 610952

Polymorphism

C/T, 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	304	Intron			NP_001161288.1
NM_015585.3	304	UTR 5			NP_056400.3
XM_005260688.3	304	UTR 5			XP_005260745.1
XM_005260689.2	304	UTR 5			XP_005260746.1
XM_005260690.3	304	UTR 5			XP_005260747.1
XM_005260691.3	304	UTR 5			XP_005260748.1
XM_005260692.3	304	UTR 5			XP_005260749.1
XM_005260693.3	304	UTR 5			XP_005260750.1
XM_005260695.4	304	Intron			XP_005260752.1
XM_005260696.4	304	Intron			XP_005260753.1
XM_005260697.1	304	UTR 5			XP_005260754.1
XM_011529211.1	304	UTR 5			XP_011527513.1
XM_011529212.2	304	UTR 5			XP_011527514.1
XM_011529213.1	304	UTR 5			XP_011527515.1
XM_017027786.1	304	UTR 5			XP_016883275.1
XM_017027787.1	304	UTR 5			XP_016883276.1
XM_017027788.1	304	UTR 5			XP_016883277.1
XM_017027789.1	304	UTR 5			XP_016883278.1
XM_017027790.1	304	UTR 5			XP_016883279.1
XM_017027791.1	304	Intron			XP_016883280.1
XM_017027792.1	304	Intron			XP_016883281.1
XM_017027793.1	304	Intron			XP_016883282.1
XM_017027794.1	304	Intron			XP_016883283.1
XM_017027795.1	304	UTR 5			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	304	Missense Mutation	TAC,TGC	Y79C	NP_001265554.1
NM_001278626.1	304	UTR 5			NP_001265555.1
NM_001278627.1	304	UTR 5			NP_001265556.1
NM_001278628.1	304	Intron			NP_001265557.1
NM_016652.5	304	Missense Mutation	TAC,TGC	Y91C	NP_057736.4

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