Product Details

SNP ID

rs150529893

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129635327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGAGGGCGTGATTCTGGACGAC[A/G]TGGACAGCAGCGTGTGCCGGGACCT

Phenotype

MIM: 615051 MIM: 613560

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ASB6 PubMed Links

Gene Details

Gene

ASB6

Gene Name

ankyrin repeat and SOCS box containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202403.1	758	UTR 3			NP_001189332.1
NM_017873.3	758	UTR 3			NP_060343.1
NM_177999.2	758	UTR 3			NP_821066.1

Gene

NTMT1

Gene Name

N-terminal Xaa-Pro-Lys N-methyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286796.1	758	Missense Mutation	ATG,GTG	M179V	NP_001273725.1
NM_001286797.1	758	Missense Mutation	ATG,GTG	M179V	NP_001273726.1
NM_001286798.1	758	Missense Mutation	ATG,GTG	M179V	NP_001273727.1
NM_001286799.1	758	Missense Mutation	ATG,GTG	M179V	NP_001273728.1
NM_001286800.1	758	UTR 3			NP_001273729.1
NM_001286801.1	758	UTR 3			NP_001273730.1
NM_001286802.1	758	Missense Mutation	ATG,GTG	M91V	NP_001273731.1
NM_001286803.1	758	Missense Mutation	ATG,GTG	M91V	NP_001273732.1
NM_014064.3	758	Missense Mutation	ATG,GTG	M179V	NP_054783.2
XM_005251939.3	758	Missense Mutation	ATG,GTG	M91V	XP_005251996.1
XM_017014642.1	758	Intron			XP_016870131.1

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