Product Details

SNP ID

rs185277810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:124381186 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGCAGCAAACCTTGGTTGCTTCC[C/T]TCCTTCAAGGCACCGTCCATCATTG

Phenotype

MIM: 300490 MIM: 300588

Polymorphism

C/T, 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	8353	Missense Mutation	AGG,GGG	R2517G	NP_001156750.1
NM_001163279.1	8353	Missense Mutation	AGG,GGG	R2516G	NP_001156751.1
NM_014253.3	8353	Missense Mutation	AGG,GGG	R2510G	NP_055068.2
XM_011531230.2	8353	Missense Mutation	AGG,GGG	R2517G	XP_011529532.1
XM_011531236.2	8353	Missense Mutation	AGG,GGG	R1752G	XP_011529538.2
XM_011531237.2	8353	Missense Mutation	AGG,GGG	R1185G	XP_011529539.1
XM_017029208.1	8353	Missense Mutation	AGG,GGG	R2550G	XP_016884697.1
XM_017029209.1	8353	Missense Mutation	AGG,GGG	R2550G	XP_016884698.1
XM_017029210.1	8353	Missense Mutation	AGG,GGG	R2550G	XP_016884699.1
XM_017029211.1	8353	Missense Mutation	AGG,GGG	R2550G	XP_016884700.1
XM_017029212.1	8353	Missense Mutation	AGG,GGG	R2550G	XP_016884701.1
XM_017029213.1	8353	Missense Mutation	AGG,GGG	R2550G	XP_016884702.1
XM_017029214.1	8353	Missense Mutation	AGG,GGG	R2510G	XP_016884703.1
XM_017029215.1	8353	Intron			XP_016884704.1
XM_017029216.1	8353	Intron			XP_016884705.1

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