Product Details

SNP ID

rs200942359

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6519794 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGCCTGGTTGACTACATGATTTG[C/T]CAGAGCCTCATTTCTGTCTTGGAAG

Phenotype

MIM: 615818

Polymorphism

C/T, Transition 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	2151	Silent Mutation	TGC,TGT	C529C	NP_653267.2
NM_173589.3	2151	Silent Mutation	TGC,TGT	C529C	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	2151	Intron			NP_056139.1
XM_011519955.2	2151	Intron			XP_011518257.1
XM_017017423.1	2151	Intron			XP_016872912.1

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