Product Details

SNP ID

rs7931672

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6522701 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAATAGTAGTCTTTAAGAAACATAC[A/G]TCCAACTGAGAAAACTGTTACTTAA

Phenotype

MIM: 615818

Polymorphism

A/G, 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		Intron			NP_653267.2
NM_173589.3		Intron			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		Intron			NP_056139.1
XM_011519955.2		Intron			XP_011518257.1
XM_017017423.1		Intron			XP_016872912.1

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