Product Details

SNP ID

rs138633990

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73256416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCAGCTTCTAATTGCCGTCCAA[C/T]CTGAAAAAAGTGCAGCAGTTGGTGA

Phenotype

MIM: 611206 MIM: 609204

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CFAP70 PubMed Links

Gene Details

Gene

CFAP70

Gene Name

cilia and flagella associated protein 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145170.3	3322	Missense Mutation	ATT,GTT	I1080V	NP_660153.3
XM_005269489.2	3322	Missense Mutation	ATT,GTT	I888V	XP_005269546.1
XM_006717604.2	3322	Missense Mutation	ATT,GTT	I1080V	XP_006717667.1
XM_006717605.2	3322	Missense Mutation	ATT,GTT	I1080V	XP_006717668.1
XM_006717609.2	3322	Missense Mutation	ATT,GTT	I888V	XP_006717672.1
XM_006717610.2	3322	Missense Mutation	ATT,GTT	I888V	XP_006717673.1
XM_006717611.3	3322	Missense Mutation	ATT,GTT	I888V	XP_006717674.1
XM_011539212.2	3322	Missense Mutation	ATT,GTT	I888V	XP_011537514.1
XM_017015620.1	3322	Missense Mutation	ATT,GTT	I1102V	XP_016871109.1
XM_017015621.1	3322	Missense Mutation	ATT,GTT	I1101V	XP_016871110.1
XM_017015622.1	3322	Missense Mutation	ATT,GTT	I1101V	XP_016871111.1
XM_017015623.1	3322	Missense Mutation	ATT,GTT	I1076V	XP_016871112.1
XM_017015624.1	3322	Missense Mutation	ATT,GTT	I1075V	XP_016871113.1
XM_017015625.1	3322	Missense Mutation	ATT,GTT	I1072V	XP_016871114.1
XM_017015626.1	3322	Missense Mutation	ATT,GTT	I1038V	XP_016871115.1
XM_017015627.1	3322	Missense Mutation	ATT,GTT	I1032V	XP_016871116.1
XM_017015628.1	3322	Missense Mutation	ATT,GTT	I1010V	XP_016871117.1
XM_017015629.1	3322	Missense Mutation	ATT,GTT	I967V	XP_016871118.1
XM_017015630.1	3322	Missense Mutation	ATT,GTT	I888V	XP_016871119.1
XM_017015631.1	3322	Missense Mutation	ATT,GTT	I888V	XP_016871120.1
XM_017015632.1	3322	Missense Mutation	ATT,GTT	I887V	XP_016871121.1
XM_017015633.1	3322	Intron			XP_016871122.1

Gene

DNAJC9

Gene Name

DnaJ heat shock protein family (Hsp40) member C9

There are no transcripts associated with this gene.

Gene

DNAJC9-AS1

Gene Name

DNAJC9 antisense RNA 1

There are no transcripts associated with this gene.

Gene

MRPS16

Gene Name

mitochondrial ribosomal protein S16

There are no transcripts associated with this gene.

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