Product Details

SNP ID

rs143946310

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:32222313 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGGGCCGGCTACCTACCCAGAG[A/T]CGCCGCCATGGCAACGCCGCTGTCT

Phenotype

MIM: 603911

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DCDC2B PubMed Links

Gene Details

Gene

DCDC2B

Gene Name

doublecortin domain containing 2B

There are no transcripts associated with this gene.

Gene

EIF3I

Gene Name

eukaryotic translation initiation factor 3 subunit I

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003757.3	41	Intron			NP_003748.1
XM_017002671.1	41	Intron			XP_016858160.1

Gene

MTMR9LP

Gene Name

myotubularin related protein 9-like, pseudogene

There are no transcripts associated with this gene.

Gene

TMEM234

Gene Name

transmembrane protein 234

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019118.4	41	Missense Mutation	ACT,TCT	T4S	NP_061991.3
XM_011541795.2	41	Missense Mutation	ACT,TCT	T4S	XP_011540097.1
XM_017001812.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857301.1
XM_017001813.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857302.1
XM_017001814.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857303.1
XM_017001815.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857304.1
XM_017001816.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857305.1
XM_017001817.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857306.1
XM_017001818.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857307.1
XM_017001819.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857308.1
XM_017001820.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857309.1
XM_017001821.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857310.1
XM_017001822.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857311.1
XM_017001823.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857312.1
XM_017001824.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857313.1
XM_017001825.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857314.1
XM_017001826.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857315.1
XM_017001827.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857316.1
XM_017001828.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857317.1
XM_017001829.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857318.1
XM_017001830.1	41	Missense Mutation	ACT,TCT	T4S	XP_016857319.1
XM_017001831.1	41	UTR 5			XP_016857320.1

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