Product Details

SNP ID

hCV25940433

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50723582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTCTTCTCTGCTGTTTTCTGTC[C/G]CTGTTCAGTCACTTCCAGAGCTTTC

Phenotype

MIM: 608684

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NIN PubMed Links

Gene Details

Gene

NIN

Gene Name

ninein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016350.4	6474	Intron			NP_057434.4
NM_020921.3	6474	Missense Mutation	CGA,GGA	R2095G	NP_065972.3
NM_182944.2	6474	Intron			NP_891989.2
NM_182946.1	6474	Intron			NP_891991.1

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