Product Details

SNP ID

rs199864668

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:44520114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCTTGGTGATGTCATTGCGGATG[A/G]TGTCAGCCTGGCAAGGGTCTGTGAC

Phenotype

MIM: 602320

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NELL2 PubMed Links

Gene Details

Gene

NELL2

Gene Name

neural EGFL like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145107.1	2566	Missense Mutation	ACC,ATC	T814I	NP_001138579.1
NM_001145108.1	2566	Missense Mutation	ACC,ATC	T764I	NP_001138580.1
NM_001145109.1	2566	Missense Mutation	ACC,ATC	T763I	NP_001138581.1
NM_001145110.1	2566	Missense Mutation	ACC,ATC	T787I	NP_001138582.1
NM_006159.2	2566	Missense Mutation	ACC,ATC	T764I	NP_006150.1
XM_005268905.3	2566	Missense Mutation	ACC,ATC	T764I	XP_005268962.1
XM_011538396.1	2566	Missense Mutation	ACC,ATC	T764I	XP_011536698.1
XM_017019341.1	2566	Missense Mutation	ACC,ATC	T819I	XP_016874830.1
XM_017019342.1	2566	Missense Mutation	ACC,ATC	T769I	XP_016874831.1
XM_017019343.1	2566	Missense Mutation	ACC,ATC	T769I	XP_016874832.1
XM_017019344.1	2566	Missense Mutation	ACC,ATC	T769I	XP_016874833.1

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