Product Details

SNP ID

rs6075608

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:20053411 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGAGCAGTACATTTGTTACAATCT[G/T]GAACCTACATTGACACATCATTATC

Phenotype

MIM: 610952

Polymorphism

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

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