Product Details

SNP ID

rs142540448

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20935485 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGGGGGCCCCTTGTCAATCCATT[C/G]CTGGAGAGCCACAGAAATCAAGATT

Phenotype

MIM: 603334

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DNAH3 PubMed Links

Gene Details

Gene

DNAH3

Gene Name

dynein axonemal heavy chain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017539.2	12438	Missense Mutation	CAA,GAA	Q3954E	NP_060009.1
XM_006721062.1	12438	Missense Mutation	CAA,GAA	Q3908E	XP_006721125.1
XM_011545882.2	12438	Missense Mutation	CAA,GAA	Q3915E	XP_011544184.1
XM_011545883.1	12438	Missense Mutation	CAA,GAA	Q3915E	XP_011544185.1
XM_011545885.2	12438	Intron			XP_011544187.1
XM_011545886.2	12438	Missense Mutation	CAA,GAA	Q3578E	XP_011544188.1
XM_011545888.2	12438	Missense Mutation	CAA,GAA	Q3049E	XP_011544190.1
XM_011545889.2	12438	Missense Mutation	CAA,GAA	Q3049E	XP_011544191.1
XM_017023426.1	12438	Missense Mutation	CAA,GAA	Q3870E	XP_016878915.1
XM_017023427.1	12438	Missense Mutation	CAA,GAA	Q3834E	XP_016878916.1
XM_017023428.1	12438	Missense Mutation	CAA,GAA	Q3722E	XP_016878917.1
XM_017023429.1	12438	Intron			XP_016878918.1
XM_017023430.1	12438	Missense Mutation	CAA,GAA	Q1933E	XP_016878919.1
XM_017023431.1	12438	Intron			XP_016878920.1
XM_017023432.1	12438	Missense Mutation	CAA,GAA	Q3968E	XP_016878921.1

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