Product Details

SNP ID

rs2273057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:20052598 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCTGGAGCTGCGGATGAGGTGGGT[A/T]ACGCCGTGCTGACTAGCAGCGACGC

Phenotype

MIM: 610952

Polymorphism

A/T, 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	260	Intron			NP_001161288.1
NM_015585.3	260	Intron			NP_056400.3
XM_005260688.3	260	Intron			XP_005260745.1
XM_005260689.2	260	Intron			XP_005260746.1
XM_005260690.3	260	Intron			XP_005260747.1
XM_005260691.3	260	Intron			XP_005260748.1
XM_005260692.3	260	Intron			XP_005260749.1
XM_005260693.3	260	Intron			XP_005260750.1
XM_005260695.4	260	Intron			XP_005260752.1
XM_005260696.4	260	Intron			XP_005260753.1
XM_005260697.1	260	Intron			XP_005260754.1
XM_011529211.1	260	Intron			XP_011527513.1
XM_011529212.2	260	Intron			XP_011527514.1
XM_011529213.1	260	Intron			XP_011527515.1
XM_017027786.1	260	Intron			XP_016883275.1
XM_017027787.1	260	Intron			XP_016883276.1
XM_017027788.1	260	Intron			XP_016883277.1
XM_017027789.1	260	Intron			XP_016883278.1
XM_017027790.1	260	Intron			XP_016883279.1
XM_017027791.1	260	Intron			XP_016883280.1
XM_017027792.1	260	Intron			XP_016883281.1
XM_017027793.1	260	Intron			XP_016883282.1
XM_017027794.1	260	Intron			XP_016883283.1
XM_017027795.1	260	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	260	Silent Mutation	GTA,GTT	V64V	NP_001265554.1
NM_001278626.1	260	UTR 5			NP_001265555.1
NM_001278627.1	260	UTR 5			NP_001265556.1
NM_001278628.1	260	Intron			NP_001265557.1
NM_016652.5	260	Silent Mutation	GTA,GTT	V76V	NP_057736.4

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