Product Details

SNP ID

rs142562503

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:21159353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTCACTCCCTTCCTCCTCTCCT[C/T]GGGTCTCCCTGGCTTTTGAACGCTG

Phenotype

MIM: 603334 MIM: 611304

Polymorphism

C/T, Transition 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	89	Missense Mutation	CAA,CGA	Q30R	NP_060009.1
XM_006721062.1	89	Intron			XP_006721125.1
XM_011545882.2	89	Intron			XP_011544184.1
XM_011545883.1	89	Intron			XP_011544185.1
XM_011545885.2	89	Intron			XP_011544187.1
XM_011545886.2	89	Intron			XP_011544188.1
XM_011545888.2	89	Intron			XP_011544190.1
XM_011545889.2	89	Intron			XP_011544191.1
XM_017023426.1	89	Intron			XP_016878915.1
XM_017023427.1	89	Intron			XP_016878916.1
XM_017023428.1	89	Intron			XP_016878917.1
XM_017023429.1	89	Intron			XP_016878918.1
XM_017023430.1	89	Intron			XP_016878919.1
XM_017023431.1	89	Intron			XP_016878920.1
XM_017023432.1	89	Missense Mutation	CAA,CGA	Q30R	XP_016878921.1

Gene

TMEM159

Gene Name

transmembrane protein 159

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301769.1	89	Intron			NP_001288698.1
NM_001301771.1	89	Intron			NP_001288700.1
NM_001301773.1	89	Intron			NP_001288702.1
NM_001301774.1	89	Intron			NP_001288703.1
NM_001301775.1	89	Intron			NP_001288704.1
NM_020422.5	89	Intron			NP_065155.3
XM_005255439.4	89	Intron			XP_005255496.1
XM_006721066.2	89	Intron			XP_006721129.1
XM_006721067.3	89	Intron			XP_006721130.1
XM_006721069.3	89	Intron			XP_006721132.1
XM_017023471.1	89	Intron			XP_016878960.1
XM_017023472.1	89	Intron			XP_016878961.1
XM_017023473.1	89	Intron			XP_016878962.1
XM_017023474.1	89	Intron			XP_016878963.1

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