Product Details

SNP ID

rs80299691

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:225404482 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGAACAAAGCCCCACCATCCAG[A/C]AACTAGAAGATTTTTTCCCGTTGAA

Phenotype

MIM: 603341 MIM: 600024

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DNAH14 PubMed Links

Gene Details

Gene

DNAH14

Gene Name

dynein axonemal heavy chain 14

There are no transcripts associated with this gene.

Gene

LBR

Gene Name

lamin B receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002296.3	1613	Missense Mutation	GCT,TCT	A537S	NP_002287.2
NM_194442.2	1613	Missense Mutation	GCT,TCT	A537S	NP_919424.1
XM_005273125.2	1613	Missense Mutation	GCT,TCT	A495S	XP_005273182.1
XM_011544185.2	1613	Missense Mutation	GCT,TCT	A537S	XP_011542487.1

View Full Product Details