Product Details

SNP ID: rs17862129
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:90245490 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: AATCCGGCATCAGGAACAAGTCTAG[A/C]AGTTCCAGTCAAATCCCGGTGGTTG
Phenotype: MIM: 605094
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: CFAP69 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039706.2	296	Silent Mutation	AGA,AGC	R22S	NP_001034795.2
NM_001160138.1	296	Silent Mutation	AGA,AGC	R22S	NP_001153610.1
XM_005250600.3	296	Missense Mutation	AGA,AGC	R22S	XP_005250657.1
XM_011516577.2	296	Missense Mutation	AGA,AGC	R22S	XP_011514879.1
XM_011516578.2	296	Missense Mutation	AGA,AGC	R22S	XP_011514880.1
XM_011516579.1	296	Missense Mutation	AGA,AGC	R22S	XP_011514881.1
XM_017012624.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868113.1
XM_017012625.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868114.1
XM_017012626.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868115.1
XM_017012627.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868116.1
XM_017012628.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868117.1
XM_017012629.1	296	UTR 5			XP_016868118.1
XM_017012630.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868119.1
XM_017012631.1	296	Intron			XP_016868120.1
XM_017012632.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868121.1
XM_017012633.1	296	Intron			XP_016868122.1
XM_017012634.1	296	Intron			XP_016868123.1
XM_017012635.1	296	Intron			XP_016868124.1
XM_017012636.1	296	Intron			XP_016868125.1
XM_017012637.1	296	Intron			XP_016868126.1
XM_017012638.1	296	Intron			XP_016868127.1
XM_017012639.1	296	Intron			XP_016868128.1
XM_017012640.1	296	Intron			XP_016868129.1
XM_017012641.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868130.1
XM_017012642.1	296	Missense Mutation	AGA,AGC	R22S	XP_016868131.1

There are no transcripts associated with this gene.