Product Details

SNP ID

rs139599501

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:52006562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCCAGTCTGTGTGGTAGAAGT[A/G]ATCTGCATAGCTTACGATGCTGAAG

Phenotype

MIM: 610858 MIM: 605399

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C14orf166 PubMed Links

Gene Details

Gene

C14orf166

Gene Name

chromosome 14 open reading frame 166

There are no transcripts associated with this gene.

Gene

NID2

Gene Name

nidogen 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007361.3	4213	Missense Mutation	CAC,TAC	H1327Y	NP_031387.3
XM_005267405.4	4213	Missense Mutation	CAC,TAC	H1354Y	XP_005267462.1
XM_005267406.4	4213	Missense Mutation	CAC,TAC	H1306Y	XP_005267463.1
XM_005267407.4	4213	Missense Mutation	CAC,TAC	H1279Y	XP_005267464.1

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