Product Details

SNP ID

rs148567126

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53382727 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTGACCAATGTACCAGTGGCCCT[A/G]AATGGGAACATCACCTTGCTACCTG

Phenotype

MIM: 189906

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SP1 PubMed Links

Gene Details

Gene

SP1

Gene Name

Sp1 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001251825.1	733	Silent Mutation	CTA,CTG	L212L	NP_001238754.1
NM_003109.1	733	Silent Mutation	CTA,CTG	L253L	NP_003100.1
NM_138473.2	733	Silent Mutation	CTA,CTG	L260L	NP_612482.2
XM_011538696.2	733	Silent Mutation	CTA,CTG	L253L	XP_011536998.1

View Full Product Details