Product Details

SNP ID

rs117581172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35762309 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACAGCTGTCCCTACTGCGGTCAAC[A/G]TGACCAGTGCATCCCATGCTGTGGC

Phenotype

MIM: 610695

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HSPB6 PubMed Links

Gene Details

Gene

HSPB6

Gene Name

heat shock protein family B (small) member 6

There are no transcripts associated with this gene.

Gene

LIN37

Gene Name

lin-37 DREAM MuvB core complex component

There are no transcripts associated with this gene.

Gene

PROSER3

Gene Name

proline and serine rich 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039887.2	569	Missense Mutation	ATG,GTG	M166V	NP_001034976.2
XM_011526528.1	569	Missense Mutation	ATG,GTG	M166V	XP_011524830.1
XM_011526529.2	569	Missense Mutation	ATG,GTG	M165V	XP_011524831.1
XM_011526530.1	569	Missense Mutation	ATG,GTG	M166V	XP_011524832.1
XM_011526531.1	569	Missense Mutation	ATG,GTG	M166V	XP_011524833.1
XM_011526532.1	569	Missense Mutation	ATG,GTG	M166V	XP_011524834.1
XM_011526533.2	569	Missense Mutation	ATG,GTG	M166V	XP_011524835.1
XM_011526534.1	569	Missense Mutation	ATG,GTG	M166V	XP_011524836.1
XM_011526535.2	569	Missense Mutation	ATG,GTG	M66V	XP_011524837.1
XM_011526536.2	569	Missense Mutation	ATG,GTG	M165V	XP_011524838.1

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