Product Details

SNP ID

rs145827379

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:1437136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTTCGGCCAGCACAGCTCGGGT[A/G]AGGCTGCCCAGGATGCGGTGCGTGC

Phenotype

MIM: 611901

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC102724312 PubMed Links

Gene Details

Gene

LOC102724312

Gene Name

uncharacterized LOC102724312

There are no transcripts associated with this gene.

Gene

LOC107985729

Gene Name

uncharacterized LOC107985729

There are no transcripts associated with this gene.

Gene

TMEM88B

Gene Name

transmembrane protein 88B

There are no transcripts associated with this gene.

Gene

VWA1

Gene Name

von Willebrand factor A domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022834.4	509	Missense Mutation	AAG,GAG	K95E	NP_073745.2
NM_199121.2	509	Intron			NP_954572.2

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