Product Details

SNP ID

rs4671933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:54460128 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTGTTGCAAATGCAGATTCTTAG[A/G]CCCCACTCTGAACTCAGCCAATCGG

Phenotype

MIM: 182790

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SPTBN1 PubMed Links

Gene Details

Gene

SPTBN1

Gene Name

spectrin beta, non-erythrocytic 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003128.2		Intron			NP_003119.2
NM_178313.2		Intron			NP_842565.2
XM_005264517.2		Intron			XP_005264574.1
XM_005264518.1		Intron			XP_005264575.1
XM_006712087.2		Intron			XP_006712150.1
XM_017004779.1		Intron			XP_016860268.1
XM_017004780.1		Intron			XP_016860269.1
XM_017004781.1		Intron			XP_016860270.1

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