Product Details

SNP ID

rs200163818

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:77278484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGCCAAGCCCCAGGCACAGAGC[C/T]GCAGGAGGGTGTCCCACAGAATGCC

Phenotype

MIM: 605304 MIM: 607439

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NGB PubMed Links

Gene Details

Gene

NGB

Gene Name

neuroglobin

There are no transcripts associated with this gene.

Gene

POMT2

Gene Name

protein O-mannosyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013382.5	2360	Missense Mutation	CAG,CGG	Q686R	NP_037514.2
XM_011536675.2	2360	Missense Mutation	CAG,CGG	Q749R	XP_011534977.1
XM_011536676.2	2360	Missense Mutation	CAG,CGG	Q638R	XP_011534978.1
XM_011536677.2	2360	Missense Mutation	CAG,CGG	Q596R	XP_011534979.1
XM_011536679.2	2360	Missense Mutation	CAG,CGG	Q447R	XP_011534981.1
XM_017021244.1	2360	Missense Mutation	CAG,CGG	Q384R	XP_016876733.1
XM_017021245.1	2360	Missense Mutation	CAG,CGG	Q384R	XP_016876734.1

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