Product Details

SNP ID

rs1649292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:84823998 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGATCGCTGAATTGCCGGAGTCGC[G/A]GCCTCCGCTGTGACCGCCTCCGCTT

Phenotype

MIM: 603336 MIM: 614912

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

DNAH6 PubMed Links

Gene Details

Gene

DNAH6

Gene Name

dynein axonemal heavy chain 6

There are no transcripts associated with this gene.

Gene

TRABD2A

Gene Name

TraB domain containing 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080824.2	1348	Missense Mutation	CCG,CTG	P381L	NP_001074293.1
NM_001277053.1	1348	Missense Mutation	CCG,CTG	P430L	NP_001263982.1
NM_001307978.1	1348	Intron			NP_001294907.1
XM_011532504.1	1348	Missense Mutation	CCG,CTG	P327L	XP_011530806.1

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