Product Details

SNP ID

rs17865323

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:90245460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAGCCGGGGCGACCGCCGAGGC[C/T]CAGGAATCCGGCATCAGGAACAAGT

Phenotype

MIM: 605094

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CFAP69 PubMed Links

Gene Details

Gene

CFAP69

Gene Name

cilia and flagella associated protein 69

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039706.2	266	Silent Mutation	GCC,GCT	A12A	NP_001034795.2
NM_001160138.1	266	Silent Mutation	GCC,GCT	A12A	NP_001153610.1
XM_005250600.3	266	Silent Mutation	GCC,GCT	A12A	XP_005250657.1
XM_011516577.2	266	Silent Mutation	GCC,GCT	A12A	XP_011514879.1
XM_011516578.2	266	Silent Mutation	GCC,GCT	A12A	XP_011514880.1
XM_011516579.1	266	Silent Mutation	GCC,GCT	A12A	XP_011514881.1
XM_017012624.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868113.1
XM_017012625.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868114.1
XM_017012626.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868115.1
XM_017012627.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868116.1
XM_017012628.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868117.1
XM_017012629.1	266	UTR 5			XP_016868118.1
XM_017012630.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868119.1
XM_017012631.1	266	Intron			XP_016868120.1
XM_017012632.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868121.1
XM_017012633.1	266	Intron			XP_016868122.1
XM_017012634.1	266	Intron			XP_016868123.1
XM_017012635.1	266	Intron			XP_016868124.1
XM_017012636.1	266	Intron			XP_016868125.1
XM_017012637.1	266	Intron			XP_016868126.1
XM_017012638.1	266	Intron			XP_016868127.1
XM_017012639.1	266	Intron			XP_016868128.1
XM_017012640.1	266	Intron			XP_016868129.1
XM_017012641.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868130.1
XM_017012642.1	266	Silent Mutation	GCC,GCT	A12A	XP_016868131.1

Gene

STEAP2

Gene Name

STEAP2 metalloreductase

There are no transcripts associated with this gene.

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