Product Details

SNP ID

rs80084860

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:124380753 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTTAGTCCAGGCCTGGGCCACT[A/G]CGCGCTGTCTGGCAATCTCCAACAC

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	8786	Missense Mutation	GCA,GTA	A2661V	NP_001156750.1
NM_001163279.1	8786	Missense Mutation	GCA,GTA	A2660V	NP_001156751.1
NM_014253.3	8786	Missense Mutation	GCA,GTA	A2654V	NP_055068.2
XM_011531230.2	8786	Missense Mutation	GCA,GTA	A2661V	XP_011529532.1
XM_011531236.2	8786	Missense Mutation	GCA,GTA	A1896V	XP_011529538.2
XM_011531237.2	8786	Missense Mutation	GCA,GTA	A1329V	XP_011529539.1
XM_017029208.1	8786	Missense Mutation	GCA,GTA	A2694V	XP_016884697.1
XM_017029209.1	8786	Missense Mutation	GCA,GTA	A2694V	XP_016884698.1
XM_017029210.1	8786	Missense Mutation	GCA,GTA	A2694V	XP_016884699.1
XM_017029211.1	8786	Missense Mutation	GCA,GTA	A2694V	XP_016884700.1
XM_017029212.1	8786	Missense Mutation	GCA,GTA	A2694V	XP_016884701.1
XM_017029213.1	8786	Missense Mutation	GCA,GTA	A2694V	XP_016884702.1
XM_017029214.1	8786	Missense Mutation	GCA,GTA	A2654V	XP_016884703.1
XM_017029215.1	8786	Intron			XP_016884704.1
XM_017029216.1	8786	Intron			XP_016884705.1

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