Product Details

SNP ID

rs11603869

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.11:6519995 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAGGCAGAAACCCTTTCTCTCATCA[C/G]AGCTGGTCTTTGATGATCATGGTCA

Phenotype

MIM: 615818

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DNHD1 PubMed Links

Gene Details

Gene

DNHD1

Gene Name

dynein heavy chain domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144666.2	2242	Missense Mutation	CAG,GAG	Q560E	NP_653267.2
NM_173589.3	2242	Missense Mutation	CAG,GAG	Q560E	NP_775860.3

Gene

RRP8

Gene Name

ribosomal RNA processing 8, methyltransferase, homolog (yeast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015324.3	2242	Intron			NP_056139.1
XM_011519955.2	2242	Intron			XP_011518257.1
XM_017017423.1	2242	Intron			XP_016872912.1

View Full Product Details