Product Details

SNP ID

rs199690651

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30558156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCATGTCTGCTCTTAGGACCAC[C/T]CAGCCTTCTGGGCCCTCCCCCCATG

Phenotype

MIM: 143024

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GNL1 PubMed Links

Gene Details

Gene

GNL1

Gene Name

G protein nucleolar 1 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005275.3	749	Intron			NP_005266.2
XM_005249015.3	749	Intron			XP_005249072.1

Gene

PRR3

Gene Name

proline rich 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077497.2	749	Intron			NP_001070965.1
NM_025263.3	749	Missense Mutation	CCC,CTC	P38L	NP_079539.2

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