Product Details

SNP ID

rs141791451

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100682337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCGCCCACCGTCCAGGCTGCCCG[A/T]GGCGCTCAGCGTGTGCAGCATCTGC

Phenotype

MIM: 612064 MIM: 139390

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GIGYF1 PubMed Links

Gene Details

Gene

GIGYF1

Gene Name

GRB10 interacting GYF protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022574.4	3536	Missense Mutation	ACG,TCG	T916S	NP_072096.2
XM_005250532.1	3536	Missense Mutation	ACG,TCG	T916S	XP_005250589.1
XM_011516472.1	3536	Missense Mutation	ACG,TCG	T916S	XP_011514774.1
XM_011516477.1	3536	Missense Mutation	ACG,TCG	T915S	XP_011514779.1
XM_017012526.1	3536	Missense Mutation	ACG,TCG	T916S	XP_016868015.1
XM_017012527.1	3536	Missense Mutation	ACG,TCG	T916S	XP_016868016.1
XM_017012528.1	3536	Missense Mutation	ACG,TCG	T916S	XP_016868017.1
XM_017012529.1	3536	Missense Mutation	ACG,TCG	T916S	XP_016868018.1
XM_017012530.1	3536	Missense Mutation	ACG,TCG	T916S	XP_016868019.1
XM_017012531.1	3536	Missense Mutation	ACG,TCG	T814S	XP_016868020.1

Gene

GNB2

Gene Name

G protein subunit beta 2

There are no transcripts associated with this gene.

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