Product Details

SNP ID

rs7628368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:113005772 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTTCTATGCACAGTACAGTGTG[A/G]GAGTCTCCACTTAGCACTGGTATCT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTPBP8 PubMed Links

Gene Details

Gene

GTPBP8

Gene Name

GTP binding protein 8 (putative)

There are no transcripts associated with this gene.

Gene

NEPRO

Gene Name

nucleolus and neural progenitor protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319109.1	1255	Missense Mutation	CCA,TCA	P420S	NP_001306038.1
NM_001319110.1	1255	Missense Mutation	CCA,TCA	P323S	NP_001306039.1
NM_001319111.1	1255	Missense Mutation	CCA,TCA	P287S	NP_001306040.1
NM_001319112.1	1255	Missense Mutation	CCA,TCA	P379S	NP_001306041.1
NM_001319114.1	1255	Missense Mutation	CCA,TCA	P354S	NP_001306043.1
NM_001319115.1	1255	Missense Mutation	CCA,TCA	P393S	NP_001306044.1
NM_015412.3	1255	Missense Mutation	CCA,TCA	P490S	NP_056227.2
XM_005247276.2	1255	Missense Mutation	CCA,TCA	P354S	XP_005247333.1
XM_011512635.2	1255	Missense Mutation	CCA,TCA	P287S	XP_011510937.1
XM_011512636.2	1255	Missense Mutation	CCA,TCA	P287S	XP_011510938.1
XM_011512638.2	1255	Missense Mutation	CCA,TCA	P287S	XP_011510940.1
XM_017006102.1	1255	UTR 3			XP_016861591.1
XM_017006103.1	1255	UTR 3			XP_016861592.1

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