Product Details

SNP ID

rs35047380

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:95486020 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACTAAATCTGGAGCTGCCAAGTTA[C/G]TTAAGAGAAATTTCCTTGAGGCGCT

Phenotype

MIM: 605761

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ASB4 PubMed Links

Gene Details

Gene

ASB4

Gene Name

ankyrin repeat and SOCS box containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016116.2	120	Missense Mutation	CTT,GTT	L17V	NP_057200.1
NM_145872.2	120	Missense Mutation	CTT,GTT	L17V	NP_665879.1
XM_017012303.1	120	Missense Mutation	CTT,GTT	L17V	XP_016867792.1

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