Product Details

SNP ID

rs35376163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53382756 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGAACATCACCTTGCTACCTGTCA[A/G]CAGCGTTTCTGCAGCTACCTTGACT

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	762	Missense Mutation	AAC,AGC	N222S	NP_001238754.1
NM_003109.1	762	Missense Mutation	AAC,AGC	N263S	NP_003100.1
NM_138473.2	762	Missense Mutation	AAC,AGC	N270S	NP_612482.2
XM_011538696.2	762	Missense Mutation	AAC,AGC	N263S	XP_011536998.1

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