Product Details

SNP ID

rs144397807

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:150553244 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGAGGAGACCCAGGAGATTCGAG[C/T]GGCCAGGAGGTGAGAGGCCTGGGTG

Phenotype

MIM: 610113

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADAMTSL4 PubMed Links

Gene Details

Gene

ADAMTSL4

Gene Name

ADAMTS like 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288607.1	673	Missense Mutation	GCG,GTG	A142V	NP_001275536.1
NM_001288608.1	673	Missense Mutation	GCG,GTG	A142V	NP_001275537.1
NM_019032.5	673	Missense Mutation	GCG,GTG	A142V	NP_061905.2
NM_025008.4	673	Missense Mutation	GCG,GTG	A142V	NP_079284.2
XM_011509644.2	673	Missense Mutation	GCG,GTG	A175V	XP_011507946.1
XM_011509645.2	673	Missense Mutation	GCG,GTG	A175V	XP_011507947.1
XM_011509648.2	673	Missense Mutation	GCG,GTG	A142V	XP_011507950.1
XM_011509649.2	673	Missense Mutation	GCG,GTG	A175V	XP_011507951.1
XM_011509650.2	673	Missense Mutation	GCG,GTG	A175V	XP_011507952.1
XM_011509651.2	673	Intron			XP_011507953.1
XM_011509652.1	673	Intron			XP_011507954.1
XM_017001506.1	673	Missense Mutation	GCG,GTG	A142V	XP_016856995.1
XM_017001507.1	673	Intron			XP_016856996.1

Gene

ADAMTSL4-AS1

Gene Name

ADAMTSL4 antisense RNA 1

There are no transcripts associated with this gene.

Gene

LOC100289061

Gene Name

uncharacterized LOC100289061

There are no transcripts associated with this gene.

Gene

LOC107983947

Gene Name

uncharacterized LOC107983947

There are no transcripts associated with this gene.

Gene

MIR4257

Gene Name

microRNA 4257

There are no transcripts associated with this gene.

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