Product Details

SNP ID

rs28638429

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4292877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGGTATAGGACGTTGCTGTAGA[A/G]TGCATTTCCTAGGATGGATGACACA

Phenotype

MIM: 610481 MIM: 614715

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SHD PubMed Links

Gene Details

Gene

SHD

Gene Name

Src homology 2 domain containing transforming protein D

There are no transcripts associated with this gene.

Gene

TMIGD2

Gene Name

transmembrane and immunoglobulin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001169126.1	257	Missense Mutation	CTC,TTC	L187F	NP_001162597.1
NM_001308232.1	257	Missense Mutation	CTC,TTC	L71F	NP_001295161.1
NM_144615.2	257	Missense Mutation	CTC,TTC	L191F	NP_653216.2
XM_017026284.1	257	Intron			XP_016881773.1

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