Product Details

SNP ID

rs889057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:157626357 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTTAAAATTATAAATCCCTGAGCA[C/T]TTTTTCTTCTTCCTCCTCATCACTG

Phenotype

MIM: 606698

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SOX30 PubMed Links

Gene Details

Gene

SOX30

Gene Name

SRY-box 30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308165.1	1351	Missense Mutation	ATG,GTG	M444V	NP_001295094.1
NM_007017.2	1351	UTR 3			NP_008948.1
NM_178424.1	1351	Missense Mutation	ATG,GTG	M749V	NP_848511.1
XM_005265803.4	1351	Missense Mutation	ATG,GTG	M444V	XP_005265860.1
XM_011534420.1	1351	Missense Mutation	ATG,GTG	M444V	XP_011532722.1

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