Product Details

SNP ID

rs12754808

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:150552302 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGGGGAGCGATGGAGAACTGGA[C/G]TGGCAGGTGAGAGAAGGGGCCACGG

Phenotype

MIM: 610113

Polymorphism

C/G, Transversion 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	262	Missense Mutation	ACT,AGT	T5S	NP_001275536.1
NM_001288608.1	262	Missense Mutation	ACT,AGT	T5S	NP_001275537.1
NM_019032.5	262	Missense Mutation	ACT,AGT	T5S	NP_061905.2
NM_025008.4	262	Missense Mutation	ACT,AGT	T5S	NP_079284.2
XM_011509644.2	262	Missense Mutation	ACT,AGT	T38S	XP_011507946.1
XM_011509645.2	262	Missense Mutation	ACT,AGT	T38S	XP_011507947.1
XM_011509648.2	262	Missense Mutation	ACT,AGT	T5S	XP_011507950.1
XM_011509649.2	262	Missense Mutation	ACT,AGT	T38S	XP_011507951.1
XM_011509650.2	262	Missense Mutation	ACT,AGT	T38S	XP_011507952.1
XM_011509651.2	262	Intron			XP_011507953.1
XM_011509652.1	262	Intron			XP_011507954.1
XM_017001506.1	262	Missense Mutation	ACT,AGT	T5S	XP_016856995.1
XM_017001507.1	262	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011510285.1	262	Intron			XP_011508587.1

Gene

MIR4257

Gene Name

microRNA 4257

There are no transcripts associated with this gene.

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