Product Details

SNP ID

rs41317513

Assay Type

Functionally tested

NCBI dbSNP Submissions

27

Location

Chr.1:150552949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTACAGAGGAGGGCCAGGGCCCC[A/G]AAGGTGTCTGGGGACCTTGGGTCCA

Phenotype

MIM: 610113

Polymorphism

A/G, 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	378	Missense Mutation	AAA,GAA	K44E	NP_001275536.1
NM_001288608.1	378	Missense Mutation	AAA,GAA	K44E	NP_001275537.1
NM_019032.5	378	Missense Mutation	AAA,GAA	K44E	NP_061905.2
NM_025008.4	378	Missense Mutation	AAA,GAA	K44E	NP_079284.2
XM_011509644.2	378	Missense Mutation	AAA,GAA	K77E	XP_011507946.1
XM_011509645.2	378	Missense Mutation	AAA,GAA	K77E	XP_011507947.1
XM_011509648.2	378	Missense Mutation	AAA,GAA	K44E	XP_011507950.1
XM_011509649.2	378	Missense Mutation	AAA,GAA	K77E	XP_011507951.1
XM_011509650.2	378	Missense Mutation	AAA,GAA	K77E	XP_011507952.1
XM_011509651.2	378	Intron			XP_011507953.1
XM_011509652.1	378	Intron			XP_011507954.1
XM_017001506.1	378	Missense Mutation	AAA,GAA	K44E	XP_016856995.1
XM_017001507.1	378	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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