Product Details

SNP ID

rs150182566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:114284935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGACTGGACGGCTACCAGTGCC[C/T]CTGCCCGCTGGCCTTTGGAGGGGAG

Phenotype

MIM: 612420

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AFAP1L2 PubMed Links

Gene Details

Gene

AFAP1L2

Gene Name

actin filament associated protein 1 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001936.2	1230	Intron			NP_001001936.1
NM_001287824.1	1230	Intron			NP_001274753.1
NM_032550.3	1230	Intron			NP_115939.1
XM_005270233.4	1230	Intron			XP_005270290.1
XM_005270237.4	1230	Intron			XP_005270294.1
XM_005270241.4	1230	Intron			XP_005270298.1
XM_005270242.4	1230	Intron			XP_005270299.1
XM_011540286.2	1230	Intron			XP_011538588.1
XM_011540289.1	1230	Intron			XP_011538591.1
XM_011540290.1	1230	Intron			XP_011538592.1
XM_017016792.1	1230	Intron			XP_016872281.1
XM_017016793.1	1230	Intron			XP_016872282.1
XM_017016794.1	1230	Intron			XP_016872283.1
XM_017016795.1	1230	Intron			XP_016872284.1
XM_017016796.1	1230	Intron			XP_016872285.1
XM_017016797.1	1230	Intron			XP_016872286.1
XM_017016798.1	1230	Intron			XP_016872287.1
XM_017016799.1	1230	Intron			XP_016872288.1
XM_017016800.1	1230	Intron			XP_016872289.1
XM_017016801.1	1230	Intron			XP_016872290.1
XM_017016802.1	1230	Intron			XP_016872291.1
XM_017016803.1	1230	Intron			XP_016872292.1
XM_017016804.1	1230	Intron			XP_016872293.1
XM_017016805.1	1230	Intron			XP_016872294.1
XM_017016806.1	1230	Intron			XP_016872295.1
XM_017016807.1	1230	Intron			XP_016872296.1
XM_017016808.1	1230	Intron			XP_016872297.1
XM_017016809.1	1230	Intron			XP_016872298.1
XM_017016810.1	1230	Intron			XP_016872299.1
XM_017016811.1	1230	Intron			XP_016872300.1
XM_017016812.1	1230	Intron			XP_016872301.1
XM_017016813.1	1230	Intron			XP_016872302.1
XM_017016814.1	1230	Intron			XP_016872303.1
XM_017016815.1	1230	Intron			XP_016872304.1
XM_017016816.1	1230	Intron			XP_016872305.1
XM_017016817.1	1230	Intron			XP_016872306.1
XM_017016818.1	1230	Intron			XP_016872307.1
XM_017016819.1	1230	Intron			XP_016872308.1
XM_017016820.1	1230	Intron			XP_016872309.1
XM_017016821.1	1230	Intron			XP_016872310.1
XM_017016822.1	1230	Intron			XP_016872311.1
XM_017016823.1	1230	Intron			XP_016872312.1
XM_017016824.1	1230	Intron			XP_016872313.1
XM_017016825.1	1230	Intron			XP_016872314.1
XM_017016826.1	1230	Intron			XP_016872315.1
XM_017016827.1	1230	Intron			XP_016872316.1
XM_017016828.1	1230	Intron			XP_016872317.1
XM_017016829.1	1230	Intron			XP_016872318.1
XM_017016830.1	1230	Intron			XP_016872319.1
XM_017016831.1	1230	Intron			XP_016872320.1
XM_017016832.1	1230	Intron			XP_016872321.1

Gene

VWA2

Gene Name

von Willebrand factor A domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272046.1	1230	Missense Mutation	CCC,CTC	P321L	NP_001258975.1
NM_001320804.1	1230	Missense Mutation	CCC,CTC	P321L	NP_001307733.1
XM_011539754.2	1230	Missense Mutation	CCC,CTC	P324L	XP_011538056.1
XM_011539757.2	1230	Missense Mutation	CCC,CTC	P321L	XP_011538059.1
XM_017016177.1	1230	Missense Mutation	CCC,CTC	P331L	XP_016871666.1
XM_017016178.1	1230	Missense Mutation	CCC,CTC	P328L	XP_016871667.1
XM_017016179.1	1230	Missense Mutation	CCC,CTC	P327L	XP_016871668.1
XM_017016180.1	1230	Missense Mutation	CCT,TCT	P16S	XP_016871669.1
XM_017016181.1	1230	Missense Mutation	CCC,CTC	P331L	XP_016871670.1

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