Product Details

SNP ID

rs144301087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:164493140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTATTAGATCTGTAAATCTTGTGT[A/G]GCCATCATCCAGTGTGTGGAACATT

Phenotype

MIM: 601524

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GRB14 PubMed Links

Gene Details

Gene

GRB14

Gene Name

growth factor receptor bound protein 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303422.1	1497	Missense Mutation	CAC,TAC	H420Y	NP_001290351.1
NM_004490.2	1497	Missense Mutation	CAC,TAC	H507Y	NP_004481.2
XM_011511022.2	1497	Intron			XP_011509324.1
XM_017003899.1	1497	Missense Mutation	CAC,TAC	H307Y	XP_016859388.1

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