Product Details

SNP ID

rs187291577

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:138424439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGGCCGGAAAAGGACAGACTC[C/T]GAGGCATCAAGCCTTCGTTCTTGGC

Phenotype

MIM: 605825

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HEBP2 PubMed Links

Gene Details

Gene

HEBP2

Gene Name

heme binding protein 2

There are no transcripts associated with this gene.

Gene

NHSL1

Gene Name

NHS like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144060.1	6801	Missense Mutation	CAG,CGG	Q1488R	NP_001137532.1
NM_020464.1	6801	Missense Mutation	CAG,CGG	Q1492R	NP_065197.1
XM_005267062.4	6801	Missense Mutation	CAG,CGG	Q1536R	XP_005267119.1
XM_011535965.2	6801	Missense Mutation	CAG,CGG	Q1554R	XP_011534267.1
XM_011535966.2	6801	Missense Mutation	CAG,CGG	Q1554R	XP_011534268.1
XM_011535967.2	6801	Missense Mutation	CAG,CGG	Q1554R	XP_011534269.1
XM_011535968.2	6801	Missense Mutation	CAG,CGG	Q1510R	XP_011534270.1
XM_011535969.2	6801	Missense Mutation	CAG,CGG	Q1507R	XP_011534271.1
XM_011535970.2	6801	Missense Mutation	CAG,CGG	Q1506R	XP_011534272.1
XM_011535971.2	6801	Missense Mutation	CAG,CGG	Q1500R	XP_011534273.1
XM_011535972.2	6801	Missense Mutation	CAG,CGG	Q1492R	XP_011534274.1
XM_011535973.2	6801	Missense Mutation	CAG,CGG	Q1489R	XP_011534275.1
XM_011535974.2	6801	Missense Mutation	CAG,CGG	Q1489R	XP_011534276.1
XM_011535976.1	6801	Missense Mutation	CAG,CGG	Q1430R	XP_011534278.1
XM_017011086.1	6801	Missense Mutation	CAG,CGG	Q1554R	XP_016866575.1
XM_017011087.1	6801	Missense Mutation	CAG,CGG	Q1519R	XP_016866576.1
XM_017011088.1	6801	Missense Mutation	CAG,CGG	Q1504R	XP_016866577.1
XM_017011089.1	6801	Missense Mutation	CAG,CGG	Q1474R	XP_016866578.1

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