Product Details

SNP ID

rs143244046

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:124380862 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGGAGCTGAATATCTGCAAACC[A/G]TCTAGTCCTCCCATTCAACACAGAA

Phenotype

MIM: 300490 MIM: 300588

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SH2D1A PubMed Links

Gene Details

Gene

SH2D1A

Gene Name

SH2 domain containing 1A

There are no transcripts associated with this gene.

Gene

TENM1

Gene Name

teneurin transmembrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163278.1	8677	Missense Mutation	CGG,TGG	R2625W	NP_001156750.1
NM_001163279.1	8677	Missense Mutation	CGG,TGG	R2624W	NP_001156751.1
NM_014253.3	8677	Missense Mutation	CGG,TGG	R2618W	NP_055068.2
XM_011531230.2	8677	Missense Mutation	CGG,TGG	R2625W	XP_011529532.1
XM_011531236.2	8677	Missense Mutation	CGG,TGG	R1860W	XP_011529538.2
XM_011531237.2	8677	Missense Mutation	CGG,TGG	R1293W	XP_011529539.1
XM_017029208.1	8677	Missense Mutation	CGG,TGG	R2658W	XP_016884697.1
XM_017029209.1	8677	Missense Mutation	CGG,TGG	R2658W	XP_016884698.1
XM_017029210.1	8677	Missense Mutation	CGG,TGG	R2658W	XP_016884699.1
XM_017029211.1	8677	Missense Mutation	CGG,TGG	R2658W	XP_016884700.1
XM_017029212.1	8677	Missense Mutation	CGG,TGG	R2658W	XP_016884701.1
XM_017029213.1	8677	Missense Mutation	CGG,TGG	R2658W	XP_016884702.1
XM_017029214.1	8677	Missense Mutation	CGG,TGG	R2618W	XP_016884703.1
XM_017029215.1	8677	Intron			XP_016884704.1
XM_017029216.1	8677	Intron			XP_016884705.1

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