Product Details

SNP ID

rs4988492

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:37254295 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACATGCTGTCTACCTGACGACCAA[A/G]CCGTGCCCTTGCTCCTCGCTCTTGG

Phenotype

MIM: 139190

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GHRH PubMed Links

Gene Details

Gene

GHRH

Gene Name

growth hormone releasing hormone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184731.2	242	Missense Mutation	CTT,TTT	L75F	NP_001171660.1
NM_021081.5	242	Missense Mutation	CTT,TTT	L75F	NP_066567.1
XM_011528784.2	242	Missense Mutation	CTT,TTT	L75F	XP_011527086.1
XM_011528788.2	242	Missense Mutation	CTT,TTT	L75F	XP_011527090.1

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