Product Details

SNP ID

rs200947523

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:195738087 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACAATGGAGCAACATAACTTGGC[C/T]GTTTTGGTATATCTGCCCTCTTACA

Phenotype

MIM: 610061 MIM: 608733

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAH7 PubMed Links

Gene Details

Gene

DNAH7

Gene Name

dynein axonemal heavy chain 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018897.2	6406	Missense Mutation	CAG,CGG	Q3970R	NP_061720.2
XM_011511487.2	6406	Missense Mutation	CAG,CGG	Q3970R	XP_011509789.1
XM_011511488.2	6406	Missense Mutation	CAG,CGG	Q3930R	XP_011509790.1
XM_011511489.2	6406	Missense Mutation	CAG,CGG	Q3924R	XP_011509791.1
XM_011511490.2	6406	Missense Mutation	CAG,CGG	Q3895R	XP_011509792.1
XM_011511491.2	6406	Intron			XP_011509793.1
XM_011511492.2	6406	Intron			XP_011509794.1
XM_011511493.2	6406	Intron			XP_011509795.1
XM_011511494.2	6406	Intron			XP_011509796.1
XM_011511495.2	6406	Intron			XP_011509797.1
XM_011511497.2	6406	Missense Mutation	CAG,CGG	Q2094R	XP_011509799.1
XM_017004504.1	6406	Missense Mutation	CAG,CGG	Q3879R	XP_016859993.1

Gene

SLC39A10

Gene Name

solute carrier family 39 member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127257.1	6406	Intron			NP_001120729.1
NM_020342.2	6406	Intron			NP_065075.1
XM_005246689.4	6406	Intron			XP_005246746.2
XM_011511504.2	6406	Intron			XP_011509806.1
XM_011511505.2	6406	Intron			XP_011509807.1
XM_011511506.2	6406	Intron			XP_011509808.1
XM_011511507.2	6406	Intron			XP_011509809.1
XM_017004522.1	6406	Intron			XP_016860011.1
XM_017004523.1	6406	Intron			XP_016860012.1

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